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dbVar

Database of genomic structural variation

esv3637039

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:128,198

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: 506 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):81,666,909-81,795,106

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3637039	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
esv3637039	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	81,959,250	82,087,447

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15306800	copy number loss	SAMN00001064	Sequencing	Read depth and paired-end mapping	Heterozygous	2,799
essv15306801	copy number gain	SAMN00249949	Sequencing	Read depth and paired-end mapping	Heterozygous	2,647
essv15306802	copy number gain	SAMN01096765	Sequencing	Read depth and paired-end mapping	Heterozygous	2,584
essv15306803	copy number gain	SAMN00797021	Sequencing	Read depth and paired-end mapping	Heterozygous	3,011
essv15306804	copy number gain	SAMN00801099	Sequencing	Read depth and paired-end mapping	Heterozygous	2,842
essv15306805	copy number gain	SAMN00801126	Sequencing	Read depth and paired-end mapping	Heterozygous	2,868
essv15306806	copy number gain	SAMN00001263	Sequencing	Read depth and paired-end mapping	Heterozygous	2,919

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15306800	Remapped	Perfect	NC_000015.10:g.816 66909_81795106del	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306801	Remapped	Perfect	NC_000015.10:g.816 66909_81795106dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306802	Remapped	Perfect	NC_000015.10:g.816 66909_81795106dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306803	Remapped	Perfect	NC_000015.10:g.816 66909_81795106dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306804	Remapped	Perfect	NC_000015.10:g.816 66909_81795106dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306805	Remapped	Perfect	NC_000015.10:g.816 66909_81795106dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306806	Remapped	Perfect	NC_000015.10:g.816 66909_81795106dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	81,666,909	81,795,106
essv15306800	Submitted genomic		NC_000015.9:g.8195 9250_82087447del	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447
essv15306801	Submitted genomic		NC_000015.9:g.8195 9250_82087447dup	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447
essv15306802	Submitted genomic		NC_000015.9:g.8195 9250_82087447dup	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447
essv15306803	Submitted genomic		NC_000015.9:g.8195 9250_82087447dup	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447
essv15306804	Submitted genomic		NC_000015.9:g.8195 9250_82087447dup	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447
essv15306805	Submitted genomic		NC_000015.9:g.8195 9250_82087447dup	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447
essv15306806	Submitted genomic		NC_000015.9:g.8195 9250_82087447dup	GRCh37 (hg19)		NC_000015.9	Chr15	81,959,250	82,087,447

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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