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Possible insertion of hundreds of extra bases in a long C/T rich stretch at chr11_MATERNAL:31,305,332-31,305,733 #664

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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?

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

chr11_MATERNAL:31305332-31305733

Description of the issue

A stretch of roughly 350 bases of CT-microsatellite is being read inconsistently by different long-read platforms. In addition, large numbers of reads having CT-microsatellites are possibly being misaligned to the region (note the very high coverage which is caused by clipped reads supporting only the CT region, but not the flanks.

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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
@nhansen nhansen changed the title Possible deletions of hundreds of bases in a long C/T rich stretch at chr11_MATERNAL:31,305,332-31,305,733 Possible insertion of hundreds of extra bases in a long C/T rich stretch at chr11_MATERNAL:31,305,332-31,305,733 Jan 16, 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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