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(FYI: VCF also specify that "telomeres are indicated by using positions 0 or N+1, where N is the length of the corresponding chromosome or contig.")
In the below example, the event in the VCF file should have position 16376517 instead of 16376516.
breakseq.vcf.gz:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT PB0418-N
1 16376516 . C <DEL> . LowQual SVLEN=-9741;SVTYPE=DEL;END=16386257 GT:ABC:PE:REFCOUNTS 1/1:0,0,1:1:0,0
breakseq.out:
1 1KG_Phase1 Deletion 16376517 16386257 1 . C NAME C1WLGACXX130310:1:1301:1852:84776$1;MAPQ 37;CIGAR 76M;POS 61;END 137;LIBLEN 200;LSPAN 39;RSPAN 37;PE Y;SVLEN 9741
The VCF output file appears to contain 0-based coordinates.
As per the specification, VCF files should contain 1-based coordinates (https://samtools.github.io/hts-specs/VCFv4.1.pdf).
(FYI: VCF also specify that "telomeres are indicated by using positions 0 or N+1, where N is the length of the corresponding chromosome or contig.")
In the below example, the event in the VCF file should have position 16376517 instead of 16376516.
breakseq.vcf.gz:
breakseq.out:
breakseq_genotyped.gff:
The breakpoint example above is annotated in the library as:
I am assuming that the breakpoint GFF library contains 1-based coordinate, as per the specification (http://useast.ensembl.org/info/website/upload/gff.html).
Invocation:
The run log reports success on the last line:
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