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dbVar

Database of genomic structural variation

esv3616422

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:118,106

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

Remapped(Score: Perfect):16,021,420-16,139,525

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3616422	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	16,021,420	16,139,525
esv3616422	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	15,878,929	15,997,034

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13118963	copy number loss	SAMN00006394	Sequencing	Read depth and paired-end mapping	Heterozygous	2,847
essv13118964	copy number loss	SAMN00780011	Sequencing	Read depth and paired-end mapping	Heterozygous	2,697
essv13118965	copy number gain	SAMN00006366	Sequencing	Read depth and paired-end mapping	Heterozygous	2,730
essv13118966	copy number gain	SAMN00630221	Sequencing	Read depth and paired-end mapping	Heterozygous	3,136
essv13118967	copy number gain	SAMN01091027	Sequencing	Read depth and paired-end mapping	Homozygous	2,816

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13118963	Remapped	Perfect	NC_000008.11:g.160 21420_16139525del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,021,420	16,139,525
essv13118964	Remapped	Perfect	NC_000008.11:g.160 21420_16139525del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,021,420	16,139,525
essv13118965	Remapped	Perfect	NC_000008.11:g.160 21420_16139525dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,021,420	16,139,525
essv13118966	Remapped	Perfect	NC_000008.11:g.160 21420_16139525dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,021,420	16,139,525
essv13118967	Remapped	Perfect	NC_000008.11:g.160 21420_16139525dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,021,420	16,139,525
essv13118963	Submitted genomic		NC_000008.10:g.158 78929_15997034del	GRCh37 (hg19)		NC_000008.10	Chr8	15,878,929	15,997,034
essv13118964	Submitted genomic		NC_000008.10:g.158 78929_15997034del	GRCh37 (hg19)		NC_000008.10	Chr8	15,878,929	15,997,034
essv13118965	Submitted genomic		NC_000008.10:g.158 78929_15997034dup	GRCh37 (hg19)		NC_000008.10	Chr8	15,878,929	15,997,034
essv13118966	Submitted genomic		NC_000008.10:g.158 78929_15997034dup	GRCh37 (hg19)		NC_000008.10	Chr8	15,878,929	15,997,034
essv13118967	Submitted genomic		NC_000008.10:g.158 78929_15997034dup	GRCh37 (hg19)		NC_000008.10	Chr8	15,878,929	15,997,034

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.

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