Localized issue in the hg002v1.0 assembly at chr11_MATERNAL:17806346 due to de novo diTR variant that matches HG003 variant

[jzook]

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Issue location in assembly

chr11_MATERNAL:17806346

Description of the issue

Interesting case where de novo diTR variant that matches HG003 variant, but the reference allele was inherited from HG003, so was incorrectly "fixed" in paternal and maternal by short read trio analysis

[nhansen]

That's an amazing catch, Justin. Was it variant calls from the long reads that led you to find this? I'm going to add a corresponding issue on the paternal allele, which will need to correct with a two base AC insertion at chr11_PATERNAL:chr11:17,826,918.

[nhansen]

I've added the paternal allele correction as #671