Illumina / ExpansionHunter

A tool for estimating repeat sizes
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SVTYPE missing from variant lines #186

Open bartcharbon opened 9 months ago

bartcharbon commented 9 months ago

We're using expansion hunter 5.0.0 to call STRs.

Based on the docs I would expect variant lines in the VCf to have a INFO field "SVTYPE=STR". The INFO/SVTYPE field vcfheader is present, but the field is missing from the actual data lines.

andreasssh commented 9 months ago

If this is important for you, then I just fixed this issue in my fork of EH 5.0.0, accessible @ https://gitlab.com/andreassh/ExpansionHunter/