Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3603751

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:16,014

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: 910 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):486,664-502,677

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3603751	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	486,664	502,677
esv3603751	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	486,779	502,792

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11767878	copy number loss	SAMN00006516	Sequencing	Read depth and paired-end mapping	Heterozygous	2,414
essv11767879	copy number loss	SAMN00006529	Sequencing	Read depth and paired-end mapping	Heterozygous	2,283
essv11767880	copy number loss	SAMN00000470	Sequencing	Read depth and paired-end mapping	Heterozygous	2,578
essv11767881	copy number loss	SAMN00004480	Sequencing	Read depth and paired-end mapping	Heterozygous	2,996
essv11767882	copy number gain	SAMN00249896	Sequencing	Read depth and paired-end mapping	Heterozygous	2,742
essv11767883	copy number gain	SAMN00249830	Sequencing	Read depth and paired-end mapping	Heterozygous	2,668
essv11767884	copy number gain	SAMN01761302	Sequencing	Read depth and paired-end mapping	Heterozygous	3,284

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11767878	Remapped	Perfect	NC_000005.10:g.486 664_502677del	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767879	Remapped	Perfect	NC_000005.10:g.486 664_502677del	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767880	Remapped	Perfect	NC_000005.10:g.486 664_502677del	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767881	Remapped	Perfect	NC_000005.10:g.486 664_502677del	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767882	Remapped	Perfect	NC_000005.10:g.486 664_502677dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767883	Remapped	Perfect	NC_000005.10:g.486 664_502677dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767884	Remapped	Perfect	NC_000005.10:g.486 664_502677dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	486,664	502,677
essv11767878	Submitted genomic		NC_000005.9:g.4867 79_502792del	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792
essv11767879	Submitted genomic		NC_000005.9:g.4867 79_502792del	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792
essv11767880	Submitted genomic		NC_000005.9:g.4867 79_502792del	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792
essv11767881	Submitted genomic		NC_000005.9:g.4867 79_502792del	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792
essv11767882	Submitted genomic		NC_000005.9:g.4867 79_502792dup	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792
essv11767883	Submitted genomic		NC_000005.9:g.4867 79_502792dup	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792
essv11767884	Submitted genomic		NC_000005.9:g.4867 79_502792dup	GRCh37 (hg19)		NC_000005.9	Chr5	486,779	502,792

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.

You are here: NCBI