cnv example

cnv_example

##fileformat=VCFv4.1
##fileDate=20140620
##reference=hs37d5
##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants">
##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants">
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record">
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##ALT=<ID=DEL,Description="Deletion">
##ALT=<ID=DUP,Description="Duplication">
##ALT=<ID=DUP:TANDEM,Description="Tandem Duplication">
##ALT=<ID=INS,Description="Insertion of novel sequence">
##ALT=<ID=INV,Description="Inversion">
##ALT=<ID=CNV,Description="Copy number variable region">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype quality">
##FORMAT=<ID=CN,Number=1,Type=Integer,Description="Copy number genotype for imprecise events">
##FORMAT=<ID=CNQ,Number=1,Type=Float,Description="Copy number genotype quality for imprecise events">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	NORMAL_SAMPLE	TUMOR_SAMPLE
1	564621	.	A	<DUP>	14	PASS	IMPRECISE;SVTYPE=DUP;END=62896419;SVLEN=62331798;CIPOS=-500,500;CIEND=-500,500;CGP_ID=1	GT:GQ:CN:CNQ  ./.:0:2:16.2	./.:0:3:28
1	62898142	.	T	<DUP>	6	PASS	IMPRECISE;SVTYPE=DUP;END=63111528;SVLEN=213386;CIPOS=-56,20;CIEND=-10,62;CGP_ID=2	GT:GQ:CN:CNQ	./.:0:2:14	./.:0:5:23