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END: End reference position (1-based), indicating the variant spans positions POS–END on reference/contig
CHROM. Normally this is the position of the last base in the REF allele, so it can be derived from POS and
the length of REF, and no END INFO field is needed. However when symbolic alleles are used, e.g. in gVCF or
structural variants, an explicit END INFO field provides variant span information that is otherwise unknown. If a record containing a symbolic structural variant allele does not have an END field, it must be computed
from the SVLEN field as per Section 3
davmlaw
changed the title
VCF 4.4 and VCF4.5 specs: rlen should be computed rather than populated from END INFO field
VCF 4.4/4.5 specs: rlen should be computed rather than populated from END INFO field
Aug 12, 2024
As commented here samtools/hts-specs#769 (comment), I did not find any mention of deprecating the INFO/END tag. This should be revisited and discussed more, I find that to be a terrible idea.
The current behavior of
bcf_update_info
in vcf.c is to use the END info tag to set rlenThis field should instead be computed for symbolic variants (eg
<DEL>
)My interpretation of the specs is that it is optional in VCF 4.4 and officially deprecated in 4.5:
VCF 4.4 spec
VCF 4.5 spec - END has been deprecated
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