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test coverage of
collapse --chain
for #196
A single site, but it covers the logic
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repo_utils/answer_key/collapse/inputissue196_collapsed.vcf
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##fileformat=VCFv4.2 | ||
##FILTER=<ID=PASS,Description="All filters passed"> | ||
##contig=<ID=chr21,length=46709983,md5=2f45a3455007b7e271509161e52954a9> | ||
##INFO=<ID=END,Number=1,Type=Integer,Description="SV END position"> | ||
##INFO=<ID=SVTYPE,Number=A,Type=String,Description="Variant type"> | ||
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length of ref and alt alleles"> | ||
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
##INFO=<ID=NumCollapsed,Number=1,Type=Integer,Description="Number of calls collapsed into this call by truvari"> | ||
##INFO=<ID=CollapseId,Number=1,Type=String,Description="Truvari uid to help tie output.vcf and output.collapsed.vcf entries together"> | ||
##INFO=<ID=NumConsolidated,Number=1,Type=Integer,Description="Number of samples consolidated into this call by truvari"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 | ||
chr21 14088112 chr21-14088113-DEL-223 A <DEL> . . END=14088558;SVTYPE=DEL;SVLEN=-223;NumCollapsed=2;NumConsolidated=0;CollapseId=1.0 GT 1|0 |
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##fileformat=VCFv4.2 | ||
##FILTER=<ID=PASS,Description="All filters passed"> | ||
##contig=<ID=chr21,length=46709983,md5=2f45a3455007b7e271509161e52954a9> | ||
##INFO=<ID=END,Number=1,Type=Integer,Description="SV END position"> | ||
##INFO=<ID=SVTYPE,Number=A,Type=String,Description="Variant type"> | ||
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length of ref and alt alleles"> | ||
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
##INFO=<ID=TruScore,Number=1,Type=Integer,Description="Truvari score for similarity of match"> | ||
##INFO=<ID=PctSeqSimilarity,Number=1,Type=Float,Description="Pct sequence similarity between this variant and its closest match"> | ||
##INFO=<ID=PctSizeSimilarity,Number=1,Type=Float,Description="Pct size similarity between this variant and its closest match"> | ||
##INFO=<ID=PctRecOverlap,Number=1,Type=Float,Description="Percent reciprocal overlap percent of the two calls' coordinates"> | ||
##INFO=<ID=StartDistance,Number=1,Type=Integer,Description="Distance of the base call's end from comparison call's start"> | ||
##INFO=<ID=EndDistance,Number=1,Type=Integer,Description="Distance of the base call's end from comparison call's end"> | ||
##INFO=<ID=SizeDiff,Number=1,Type=Float,Description="Difference in size of base and comp calls"> | ||
##INFO=<ID=GTMatch,Number=1,Type=Integer,Description="Base/Comparison genotypes AC difference"> | ||
##INFO=<ID=MatchId,Number=.,Type=String,Description="Tuple of base and comparison call ids which were matched"> | ||
##INFO=<ID=Multi,Number=0,Type=Flag,Description="Call is false due to non-multimatching"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 | ||
chr21 14088212 chr21-14088113-DEL-223 T <DEL> . . END=14088828;SVTYPE=DEL;SVLEN=-393;PctSeqSimilarity=0;PctSizeSimilarity=0.5674;PctRecOverlap=0.5624;SizeDiff=-170;StartDistance=-100;EndDistance=-270;GTMatch=.;TruScore=37;MatchId=1.0 GT 1|0 | ||
chr21 14088312 chr21-14088113-DEL-223 A <DEL> . . END=14089203;SVTYPE=DEL;SVLEN=-668;PctSeqSimilarity=0;PctSizeSimilarity=0.5883;PctRecOverlap=0.5796;SizeDiff=275;StartDistance=100;EndDistance=375;GTMatch=.;TruScore=38;MatchId=1.0 GT 1|0 |
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