Illumina / ExpansionHunter

A tool for estimating repeat sizes
Other
182 stars 51 forks source link

SVTYPE missing from variant lines #186

Open bartcharbon opened 11 months ago

bartcharbon commented 11 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 11 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/