esv3869244

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:10
Validation:Not tested
Clinical Assertions: No
Region Size:12,012

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 510 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):126,520,176-126,532,218

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3869244	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
esv3869244	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23002501	deletion	HG00254	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,343
essv23002502	deletion	HG01705	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,649
essv23002503	deletion	HG02429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv23002504	deletion	HG03916	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,153
essv23002505	deletion	HG03999	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,526
essv23002506	deletion	NA12813	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,188
essv23002507	deletion	NA20521	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,672
essv23002508	deletion	NA20529	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,384
essv23002509	deletion	NA21110	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,122
essv23002510	deletion	NA21112	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,509

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23002501	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002502	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002503	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002504	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002505	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002506	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002507	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002508	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002509	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002510	Remapped	Perfect	NC_000012.12:g.(12 6520176_126520207) _(126532187_126532 218)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,520,191 (-15, +16)	126,532,202 (-15, +16)
essv23002501	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002502	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002503	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002504	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002505	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002506	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002507	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002508	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002509	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)
essv23002510	Submitted genomic		NC_000012.11:g.(12 7004722_127004753) _(127016733_127016 764)del	GRCh37 (hg19)		NC_000012.11	Chr12	127,004,737 (-15, +16)	127,016,748 (-15, +16)

dbVar

Database of genomic structural variation

esv3869244

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.