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Missed 102 base heterozygous deletion at chr15_MATERNAL:26836841-26836942 #680

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nhansen opened this issue May 3, 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 May 3, 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)

chr15_MATERNAL:26836841-26836942

Description of the issue

Long reads mapped to the diploid assembly show the maternal haplotype should have a 102 base pair deletion (with respect to the paternal haplotype) but the assembly has both haplotypes the same. Reads are here:
image
and browser shot showing the error on the left and an upstream heterozygous snp on the right is here:
image

@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 May 3, 2024
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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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