Expand description
VCF record info key.
Constantsยง
- ADJACENT_
COPY_ NUMBER - Copy number of adjacency (
CNADJ
). - ADJACENT_
COPY_ NUMBER_ CONFIDENCE_ INTERVALS - Confidence interval around copy number for the adjacency (
CICNADJ
). - ADJACENT_
READ_ DEPTHS - Read Depth of adjacency (
DPADJ
). - ALLELE_
COUNT - Allele count in genotypes, for each ALT allele, in the same order as listed (
AC
). - ALLELE_
FREQUENCIES - Allele frequency for each ALT allele in the same order as listed (
AF
). - ANCESTRAL_
ALLELE - Ancestral allele (
AA
). - BASE_
QUALITY - RMS base quality (
BQ
). - BREAKEND_
CONFIDENCE_ INTERVALS - Confidence interval around the inserted material between breakends (
CILEN
). - BREAKEND_
COPY_ NUMBER - Copy number of segment containing breakend (
CN
). - BREAKEND_
EVENT_ ID - ID of event associated to breakend (
EVENT
). - BREAKPOINT_
IDS - ID of the assembled alternate allele in the assembly file (
BKPTID
). - CIGAR
- Cigar string describing how to align an alternate allele to the reference allele (
CIGAR
). - COPY_
NUMBER_ CONFIDENCE_ INTERVALS - Confidence interval around copy number for the segment (
CICN
). - DBV_ID
- ID of this element in Database of Genomic Variation (
DBVID
). - DB_
RIP_ ID - ID of this element in DBRIP (
DBRIPID
). - DB_
VAR_ ID - ID of this element in DBVAR (
DBVARID
). - END_
CONFIDENCE_ INTERVALS - Confidence interval around END for imprecise variants (
CIEND
). - END_
POSITION - End position of the variant described in this record (
END
). - EVENT_
TYPE - Type of associated event (
EVENTTYPE
). - FORWARD_
STRAND_ READ_ DEPTHS - Read depth for each allele on the forward strand (
ADF
). - IS_
IMPRECISE - Imprecise structural variation (
IMPRECISE
). - IS_
IN_ 1000_ GENOMES - 1000 Genomes membership (
1000G
). - IS_
IN_ DB_ SNP - dbSNP membership (
DB
). - IS_
IN_ HAP_ MAP_ 2 - HapMap2 membership (
H2
). - IS_
IN_ HAP_ MAP_ 3 - HapMap3 membership (
H3
). - IS_
NOVEL - Indicates a novel structural variation (
NOVEL
). - IS_
SOMATIC_ MUTATION - Somatic mutation (
SOMATIC
). - IS_
VALIDATED - Validated by follow-up experiment (
VALIDATED
). - MAPPING_
QUALITY - RMS mapping quality (
MQ
). - MATE_
BREAKEND_ IDS - ID of mate breakends (
MATEID
). - MICROHOMOLOGY_
LENGTHS - Length of base pair identical micro-homology at event breakpoints (
HOMLEN
). - MICROHOMOLOGY_
SEQUENCES - Sequence of base pair identical micro-homology at event breakpoints (
HOMSEQ
). - MOBILE_
ELEMENT_ INFO - Mobile element info of the form NAME,START,END,POLARITY (
MEINFO
). - MOBILE_
ELEMENT_ TRANSDUCTION_ INFO - Mobile element transduction info of the form CHR,START,END,POLARITY (
METRANS
). - PARTNER_
BREAKEND_ ID - ID of partner breakend (
PARID
). - POSITION_
CONFIDENCE_ INTERVALS - Confidence interval around POS for imprecise variants (
CIPOS
). - REPEAT_
UNIT_ BASE_ COUNTS - Number of bases in each individual repeat unit (
RUB
). - REPEAT_
UNIT_ COUNTS - Repeat unit count of corresponding repeat sequence (
RUC
). - REPEAT_
UNIT_ COUNT_ CONFIDENCE_ INTERVALS - Confidence interval around RUC (
CIRUC
). - REPEAT_
UNIT_ LENGTHS - Repeat unit length of the corresponding repeat sequence (
RUL
). - REPEAT_
UNIT_ SEQUENCES - Repeat unit sequence of the corresponding repeat sequence (
RUS
). - REVERSE_
STRAND_ READ_ DEPTHS - Read depth for each allele on the reverse strand (
ADR
). - SAMPLES_
WITH_ DATA_ COUNT - Number of samples with data (
NS
). - STRAND_
BIAS - Strand bias (
SB
). - SV_
CLAIM - Claim made by the structural variant call (
SVCLAIM
). - SV_
LENGTHS - Difference in length between REF and ALT alleles (
SVLEN
). - SV_TYPE
- Type of structural variant (
SVTYPE
). - TOTAL_
ALLELE_ COUNT - Total number of alleles in called genotypes (
AN
). - TOTAL_
DEPTH - Combined depth across samples (
DP
). - TOTAL_
READ_ DEPTHS - Total read depth for each allele (
AD
). - TOTAL_
REPEAT_ SEQUENCE_ BASE_ COUNTS - Total number of bases in the corresponding repeat sequence (
RB
). - TOTAL_
REPEAT_ SEQUENCE_ BASE_ COUNT_ CONFIDENCE_ INTERVALS - Confidence interval around RB (
CIRB
). - TOTAL_
REPEAT_ SEQUENCE_ COUNTS - Total number of repeat sequences in this allele (
RN
). - ZERO_
MAPPING_ QUALITY_ COUNT - Number of MAPQ == 0 reads (
MQ0
).