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dbVar

Database of genomic structural variation

esv3844918

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

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: 615 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
esv3844918	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
esv3844918	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
essv20176795	copy number loss	HG00684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,271
essv20176796	copy number loss	NA19771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,145
essv20176797	copy number variation	HG00127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Homozygous	2,694
essv20176798	copy number gain	HG02351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,665
essv20176799	copy number gain	HG03488	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,246
essv20176800	copy number gain	NA11931	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,411
essv20176801	copy number gain	NA19717	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,709
essv20176802	copy number gain	NA20762	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20176795	Remapped	Perfect	NC_000006.12:g.607 37125_60991614del	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176796	Remapped	Perfect	NC_000006.12:g.607 37125_60991614del	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176797	Remapped	Perfect		GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176798	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176799	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176800	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176801	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176802	Remapped	Perfect	NC_000006.12:g.607 37125_60991614dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	60,737,125	60,991,614
essv20176795	Submitted genomic		NC_000006.11:g.577 04872_57959361del	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176796	Submitted genomic		NC_000006.11:g.577 04872_57959361del	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176797	Submitted genomic			GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176798	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176799	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176800	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176801	Submitted genomic		NC_000006.11:g.577 04872_57959361dup	GRCh37 (hg19)		NC_000006.11	Chr6	57,704,872	57,959,361
essv20176802	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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