esv3619130

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:33
Validation:Not tested
Clinical Assertions: No
Region Size:4,750

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 505 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):144,500,159-144,504,908

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3619130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
esv3619130	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	145,725,542	145,730,291

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13369047	duplication	SAMN00004646	Sequencing	Read depth and paired-end mapping	Heterozygous	2,568
essv13369048	duplication	SAMN00006400	Sequencing	Read depth and paired-end mapping	Heterozygous	2,782
essv13369049	duplication	SAMN00006426	Sequencing	Read depth and paired-end mapping	Heterozygous	2,779
essv13369050	duplication	SAMN00009113	Sequencing	Read depth and paired-end mapping	Heterozygous	2,679
essv13369051	duplication	SAMN00006441	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819
essv13369052	duplication	SAMN00004686	Sequencing	Read depth and paired-end mapping	Heterozygous	2,749
essv13369053	duplication	SAMN00004692	Sequencing	Read depth and paired-end mapping	Heterozygous	2,722
essv13369054	duplication	SAMN00006477	Sequencing	Read depth and paired-end mapping	Heterozygous	2,841
essv13369055	duplication	SAMN00249902	Sequencing	Read depth and paired-end mapping	Heterozygous	2,688
essv13369056	duplication	SAMN00009225	Sequencing	Read depth and paired-end mapping	Heterozygous	2,491
essv13369057	duplication	SAMN00009242	Sequencing	Read depth and paired-end mapping	Heterozygous	2,581
essv13369058	duplication	SAMN00014427	Sequencing	Read depth and paired-end mapping	Heterozygous	2,691
essv13369059	duplication	SAMN00016852	Sequencing	Read depth and paired-end mapping	Heterozygous	2,768
essv13369060	duplication	SAMN00016854	Sequencing	Read depth and paired-end mapping	Heterozygous	2,755
essv13369061	duplication	SAMN00249834	Sequencing	Read depth and paired-end mapping	Heterozygous	2,780
essv13369062	duplication	SAMN00262969	Sequencing	Read depth and paired-end mapping	Heterozygous	3,134
essv13369063	duplication	SAMN00249690	Sequencing	Read depth and paired-end mapping	Heterozygous	2,594
essv13369064	duplication	SAMN00262971	Sequencing	Read depth and paired-end mapping	Heterozygous	3,221
essv13369065	duplication	SAMN00249802	Sequencing	Read depth and paired-end mapping	Heterozygous	2,556
essv13369066	duplication	SAMN00249805	Sequencing	Read depth and paired-end mapping	Heterozygous	2,535
essv13369067	duplication	SAMN00249744	Sequencing	Read depth and paired-end mapping	Heterozygous	2,620
essv13369068	duplication	SAMN00249857	Sequencing	Read depth and paired-end mapping	Heterozygous	2,661
essv13369069	duplication	SAMN00262998	Sequencing	Read depth and paired-end mapping	Heterozygous	2,535
essv13369070	duplication	SAMN00263008	Sequencing	Read depth and paired-end mapping	Heterozygous	2,486
essv13369071	duplication	SAMN00255130	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv13369072	duplication	SAMN00255131	Sequencing	Read depth and paired-end mapping	Heterozygous	2,595
essv13369073	duplication	SAMN00000931	Sequencing	Read depth and paired-end mapping	Heterozygous	2,685
essv13369074	duplication	SAMN00000462	Sequencing	Read depth and paired-end mapping	Heterozygous	2,630
essv13369075	duplication	SAMN00000471	Sequencing	Read depth and paired-end mapping	Heterozygous	2,613
essv13369076	duplication	SAMN00000496	Sequencing	Read depth and paired-end mapping	Heterozygous	2,663
essv13369077	duplication	SAMN00000568	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv13369078	duplication	SAMN00007810	Sequencing	Read depth and paired-end mapping	Heterozygous	3,058
essv13369079	duplication	SAMN00007822	Sequencing	Read depth and paired-end mapping	Heterozygous	2,993

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13369047	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369048	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369049	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369050	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369051	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369052	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369053	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369054	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369055	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369056	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369057	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369058	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369059	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369060	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369061	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369062	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369063	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369064	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369065	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369066	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369067	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369068	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369069	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369070	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369071	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369072	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369073	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369074	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369075	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369076	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369077	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369078	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369079	Remapped	Perfect	NC_000008.11:g.144 500159_144504908du p	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,500,159	144,504,908
essv13369047	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369048	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369049	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369050	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369051	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369052	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369053	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369054	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369055	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369056	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369057	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369058	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369059	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369060	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369061	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369062	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369063	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369064	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369065	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369066	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369067	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369068	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369069	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369070	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369071	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369072	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369073	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369074	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369075	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369076	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369077	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369078	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291
essv13369079	Submitted genomic		NC_000008.10:g.145 725542_145730291du p	GRCh37 (hg19)		NC_000008.10	Chr8	145,725,542	145,730,291

dbVar

Database of genomic structural variation

esv3619130

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.