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Larger localized issue at chr10_PATERNAL:118657102-118657835 #663

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nhansen opened this issue Jan 16, 2024 · 0 comments
Open
1 task done

Larger localized issue at chr10_PATERNAL:118657102-118657835 #663

nhansen opened this issue Jan 16, 2024 · 0 comments
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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

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nhansen commented Jan 16, 2024

Have you confirmed that this issue hasn't already been reported?

  • I have confirmed in the UCSC browser hub that this is a new issue (required)

Issue location in assembly (use format chromosome:start-end, e.g., chr13_MATERNAL:3740148-9625296)

chr10_PATERNAL:118,657,102-118,657,835

Description of the issue

Reads don't back up the assembly here, and there was a Sniffles call here in v0.9. Sequence has about 700 bases of high A/G content, which seems to have tripped up the assembly/consensus calling:
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@nhansen nhansen added v1.0 This is an issue/error in the hg002v1.0 assembly large_error This issue describes a poor quality or misassembled region in the assembly labels Jan 16, 2024
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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
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