Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Jump to bottom

Localized issue in the hg002v1.0 assembly at chr11_PATERNAL:17826918 due to de novo mutation that matches an HG003 allele #671

Open
1 task done
nhansen opened this issue Feb 23, 2024 · 0 comments
Open
1 task done

Localized issue in the hg002v1.0 assembly at chr11_PATERNAL:17826918 due to de novo mutation that matches an HG003 allele #671

nhansen opened this issue Feb 23, 2024 · 0 comments
Labels
small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly

Comments

@nhansen
Copy link
Collaborator

nhansen commented Feb 23, 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

chr11_PATERNAL:17826918

Description of the issue

This is an error on the alternate haplotype of #670. Long reads allow linking to a clearly inherited allele at the downstream G/C at chr11_PATERNAL:17827348. An AC needs to be inserted at 17826918.
image
@nhansen nhansen added v1.0 This is an issue/error in the hg002v1.0 assembly small_error This error spans fewer than 50 bases in the assembly labels Feb 23, 2024
@nhansen nhansen mentioned this issue Feb 23, 2024
Open
1 task
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Assignees
No one assigned
Labels
small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
Projects
None yet
Milestone
No milestone
Development

No branches or pull requests
1 participant
@nhansen