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dbVar

Database of genomic structural variation

esv3847566

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:6
Validation:Not tested
Clinical Assertions: No
Region Size:10,657

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: 732 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):162,528,162-162,538,818

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847566	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
esv3847566	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,949,194	162,959,850

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20475489	copy number loss	HG00593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv20475490	copy number loss	HG01051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,715
essv20475491	copy number loss	HG01323	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv20475492	copy number gain	HG02702	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,121
essv20475493	copy number gain	NA18620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv20475494	copy number gain	NA20787	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,600

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20475489	Remapped	Perfect	NC_000006.12:g.162 528162_162538818de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
essv20475490	Remapped	Perfect	NC_000006.12:g.162 528162_162538818de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
essv20475491	Remapped	Perfect	NC_000006.12:g.162 528162_162538818de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
essv20475492	Remapped	Perfect	NC_000006.12:g.162 528162_162538818du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
essv20475493	Remapped	Perfect	NC_000006.12:g.162 528162_162538818du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
essv20475494	Remapped	Perfect	NC_000006.12:g.162 528162_162538818du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,528,162	162,538,818
essv20475489	Submitted genomic		NC_000006.11:g.162 949194_162959850de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,949,194	162,959,850
essv20475490	Submitted genomic		NC_000006.11:g.162 949194_162959850de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,949,194	162,959,850
essv20475491	Submitted genomic		NC_000006.11:g.162 949194_162959850de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,949,194	162,959,850
essv20475492	Submitted genomic		NC_000006.11:g.162 949194_162959850du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,949,194	162,959,850
essv20475493	Submitted genomic		NC_000006.11:g.162 949194_162959850du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,949,194	162,959,850
essv20475494	Submitted genomic		NC_000006.11:g.162 949194_162959850du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,949,194	162,959,850

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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