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dbVar

Database of genomic structural variation

esv3890489

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:7
Validation:Not tested
Clinical Assertions: No
Region Size:12,017

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: 613 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):155,536,442-155,548,458

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890489	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
esv3890489	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	154,766,103	154,778,119

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25742889	copy number loss	HG00378	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,431
essv25742890	copy number loss	HG00759	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,479
essv25742891	copy number loss	HG01113	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,811
essv25742892	copy number loss	HG01578	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,386
essv25742893	copy number loss	NA19661	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,668
essv25742894	copy number loss	NA19752	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,058
essv25742895	copy number gain	NA12234	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,406

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25742889	Remapped	Perfect	NC_000023.11:g.155 536442_155548458de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742890	Remapped	Perfect	NC_000023.11:g.155 536442_155548458de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742891	Remapped	Perfect	NC_000023.11:g.155 536442_155548458de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742892	Remapped	Perfect	NC_000023.11:g.155 536442_155548458de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742893	Remapped	Perfect	NC_000023.11:g.155 536442_155548458de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742894	Remapped	Perfect	NC_000023.11:g.155 536442_155548458de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742895	Remapped	Perfect	NC_000023.11:g.155 536442_155548458du p	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,536,442	155,548,458
essv25742889	Submitted genomic		NC_000023.10:g.154 766103_154778119de l	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119
essv25742890	Submitted genomic		NC_000023.10:g.154 766103_154778119de l	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119
essv25742891	Submitted genomic		NC_000023.10:g.154 766103_154778119de l	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119
essv25742892	Submitted genomic		NC_000023.10:g.154 766103_154778119de l	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119
essv25742893	Submitted genomic		NC_000023.10:g.154 766103_154778119de l	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119
essv25742894	Submitted genomic		NC_000023.10:g.154 766103_154778119de l	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119
essv25742895	Submitted genomic		NC_000023.10:g.154 766103_154778119du p	GRCh37 (hg19)		NC_000023.10	ChrX	154,766,103	154,778,119

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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