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38 Open 646 Closed
38 Open 646 Closed
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Issues list

29bp INS in AG-rich region chr17_MATERNAL:19,892,165-19,892,528 small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#685 opened May 31, 2024 by jzook
1 task done
32bp INS next to diTR chr14_MATERNAL:33,622,162-33,622,279 small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#684 opened May 31, 2024 by jzook
1 task done
281bp del in hsat1a in chr4_PATERNAL:52,721,732-52,722,119 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#683 opened May 31, 2024 by jzook
1 task done
Large error at segdup at end of GSATII in chr14_PATERNAL:18,347,448-18,348,454 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#682 opened May 31, 2024 by jzook
1 task done
Missing ~172bp sequence in chr1_PATERNAL:8561421-8561474 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#681 opened May 6, 2024 by jzook
1 task done
Missed 102 base heterozygous deletion at chr15_MATERNAL:26836841-26836942 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#680 opened May 3, 2024 by nhansen
1 task done
Tandem repeat sequence too short at chr14_MATERNAL:107,224,612-107,233,706 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#679 opened Apr 9, 2024 by nhansen
1 task done
1
126-bp false insertion at chr14_MATERNAL:40992221-40992366 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#678 opened Apr 9, 2024 by nhansen
1 task done
Flagger-detected deletion of tetramer GAAA repeat around chr1_PATERNAL:164,490,100 small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#677 opened Mar 5, 2024 by nhansen
1 task done
Flagger-detected region of low coverage and clipping at chr1_PATERNAL:164,471,995-164,519,071 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#676 opened Mar 5, 2024 by nhansen
1 task done
Poor consensus due to low HiFi coverage at chr1_MATERNAL:836,790-893,824 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#675 opened Mar 5, 2024 by nhansen
1 task done
1
Possibly collapsed repeat at chr16_PATERNAL:45,735,392-45,828,318 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#674 opened Mar 5, 2024 by nhansen
1 task done
Collapsed ~2kb repeat around chr13_MATERNAL:958,545-985,179 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#673 opened Mar 4, 2024 by nhansen
1 task done
Larger localized issue in the hg002v1.0 assembly AT-microsatellite chr10_MATERNAL:110,134,550-110,136,922 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#672 opened Feb 23, 2024 by jzook
1 task done
Localized issue in the hg002v1.0 assembly at chr11_PATERNAL:17826918 due to de novo mutation that matches an HG003 allele small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#671 opened Feb 23, 2024 by nhansen
1 task done
Localized issue in the hg002v1.0 assembly at chr11_MATERNAL:17806346 due to de novo diTR variant that matches HG003 variant small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#670 opened Feb 23, 2024 by jzook
1 task done
2
Misphased simple tandem repeat at chr10_PATERNAL:98945239-98945283 small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#669 opened Feb 9, 2024 by nhansen
1 task done
2
Misphased simple tandem repeat at chr10_MATERNAL:99,073,347-99,073,387 small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#668 opened Feb 9, 2024 by nhansen
1 task done
2
Poor consensus quality at chr12_PATERNAL:130,083,000-130,084,200 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#667 opened Jan 17, 2024 by nhansen
1 task done
Poor consensus quality at chr12_MATERNAL:54,203,389-54,203,897 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#666 opened Jan 16, 2024 by nhansen
1 task done
1
850 extra bases around chr11_PATERNAL:53118200-53119300 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#665 opened Jan 16, 2024 by nhansen
1 task done
Possible insertion of hundreds of extra bases in a long C/T rich stretch at chr11_MATERNAL:31,305,332-31,305,733 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#664 opened Jan 16, 2024 by nhansen
1 task done
Larger localized issue at chr10_PATERNAL:118657102-118657835 large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#663 opened Jan 16, 2024 by nhansen
1 task done
13kb false duplication at chr10_MATERNAL:43,216,000-43,245,000 large_error This issue describes a poor quality or misassembled region in the assembly recall_consensus This issue is a candidate for re-calling consensus from spanning reads to create a patch v1.0 This is an issue/error in the hg002v1.0 assembly
#662 opened Jan 16, 2024 by nhansen
1 task done
5
False het SNV at chr21_MATERNAL:11543767 small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
#661 opened Dec 6, 2023 by nhansen
1 task done
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