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dbVar

Database of genomic structural variation

esv3609153

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:254,490

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: 616 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):60,737,125-60,991,614

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3609153	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
esv3609153	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	57,704,872	57,959,361

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12379657	copy number loss	SAMN00006556	Sequencing	Read depth and paired-end mapping	Heterozygous	2,702
essv12379658	copy number loss	SAMN00007780	Sequencing	Read depth and paired-end mapping	Heterozygous	2,316
essv12379659	copy number gain	SAMN00004645	Sequencing	Read depth and paired-end mapping	Homozygous	2,148
essv12379660	copy number gain	SAMN00263033	Sequencing	Read depth and paired-end mapping	Heterozygous	2,827
essv12379661	copy number gain	SAMN01090910	Sequencing	Read depth and paired-end mapping	Heterozygous	2,648
essv12379662	copy number gain	SAMN00001534	Sequencing	Read depth and paired-end mapping	Heterozygous	2,828
essv12379663	copy number gain	SAMN00007747	Sequencing	Read depth and paired-end mapping	Heterozygous	2,856
essv12379664	copy number gain	SAMN00001281	Sequencing	Read depth and paired-end mapping	Heterozygous	2,758

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12379657	Remapped	Perfect	NC_000006.12:g.607 37125_60991614del	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379658	Remapped	Perfect	NC_000006.12:g.607 37125_60991614del	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379659	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379660	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379661	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379662	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379663	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379664	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv12379657	Submitted genomic		NC_000006.11:g.577 04872_57959361del	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379658	Submitted genomic		NC_000006.11:g.577 04872_57959361del	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379659	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379660	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379661	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379662	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379663	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv12379664	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361

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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