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Large error at segdup at end of GSATII in chr14_PATERNAL:18,347,448-18,348,454 #682

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jzook opened this issue May 31, 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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@jzook
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jzook commented May 31, 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)

chr14_PATERNAL:18347448-18348454

Description of the issue

Long reads all indicate there is an issue with the assembly here, though unclear what the exact problem is. Not sure how we hadn't caught this yet, but maybe because the sequence is very wrong and it's at the edge of GSATII and a segdup
Screenshot 2024-05-31 at 3 58 52 PM

@jzook jzook 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 May 31, 2024
@nhansen nhansen closed this as completed Feb 21, 2025
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Labels
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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