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dbVar

Database of genomic structural variation

esv3819597

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:73,021

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: 264 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):71,126,870-71,199,890

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3819597	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	71,126,870	71,199,890
esv3819597	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	71,592,553	71,665,573

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17096764	copy number loss	HG02923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,132
essv17096765	copy number gain	NA18608	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,695

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17096764	Remapped	Perfect	NC_000001.11:g.711 26870_71199890del	GRCh38.p12	First Pass	NC_000001.11	Chr1	71,126,870	71,199,890
essv17096765	Remapped	Perfect	NC_000001.11:g.711 26870_71199890dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	71,126,870	71,199,890
essv17096764	Submitted genomic		NC_000001.10:g.715 92553_71665573del	GRCh37 (hg19)		NC_000001.10	Chr1	71,592,553	71,665,573
essv17096765	Submitted genomic		NC_000001.10:g.715 92553_71665573dup	GRCh37 (hg19)		NC_000001.10	Chr1	71,592,553	71,665,573

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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