esv3849684

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:23
Validation:Not tested
Clinical Assertions: No
Region Size:44,149

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: 672 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):65,378,970-65,423,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3849684	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
esv3849684	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	64,843,883	64,888,031

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20692445	copy number loss	HG00115	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,746
essv20692446	copy number loss	HG00119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,595
essv20692447	copy number loss	HG01438	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,233
essv20692448	copy number loss	HG01618	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,073
essv20692449	copy number loss	HG01870	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,133
essv20692450	copy number loss	HG02262	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,572
essv20692451	copy number loss	HG02292	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,911
essv20692452	copy number loss	HG03646	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,556
essv20692453	copy number loss	HG03757	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,223
essv20692454	copy number loss	HG04080	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,113
essv20692455	copy number loss	HG04107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,794
essv20692456	copy number loss	HG04206	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,791
essv20692457	copy number loss	NA11840	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,428
essv20692458	copy number loss	NA12058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,433
essv20692459	copy number loss	NA19001	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,369
essv20692460	copy number loss	NA20502	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,989
essv20692461	copy number loss	NA20787	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,600
essv20692462	copy number loss	NA20901	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,465
essv20692463	copy number loss	NA21103	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,842
essv20692464	copy number gain	HG01933	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,343
essv20692465	copy number gain	HG03055	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,895
essv20692466	copy number gain	HG03856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,504
essv20692467	copy number gain	HG04182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,199

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20692445	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692446	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692447	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692448	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692449	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692450	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692451	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692452	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692453	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692454	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692455	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692456	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692457	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692458	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692459	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692460	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692461	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692462	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692463	Remapped	Perfect	NC_000007.14:g.653 78970_65423118del	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692464	Remapped	Perfect	NC_000007.14:g.653 78970_65423118dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692465	Remapped	Perfect	NC_000007.14:g.653 78970_65423118dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692466	Remapped	Perfect	NC_000007.14:g.653 78970_65423118dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692467	Remapped	Perfect	NC_000007.14:g.653 78970_65423118dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,378,970	65,423,118
essv20692445	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692446	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692447	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692448	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692449	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692450	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692451	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692452	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692453	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692454	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692455	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692456	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692457	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692458	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692459	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692460	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692461	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692462	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692463	Submitted genomic		NC_000007.13:g.648 43883_64888031del	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692464	Submitted genomic		NC_000007.13:g.648 43883_64888031dup	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692465	Submitted genomic		NC_000007.13:g.648 43883_64888031dup	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692466	Submitted genomic		NC_000007.13:g.648 43883_64888031dup	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031
essv20692467	Submitted genomic		NC_000007.13:g.648 43883_64888031dup	GRCh37 (hg19)		NC_000007.13	Chr7	64,843,883	64,888,031

dbVar

Database of genomic structural variation

esv3849684

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.