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dbVar

Database of genomic structural variation

esv3851056

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:65

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: 150 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):117,514,486-117,514,550

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3851056	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	117,514,486	117,514,550
esv3851056	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	117,154,540	117,154,604

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20846146	deletion	NA19475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,150

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20846146	Remapped	Perfect	NC_000007.14:g.117 514486_117514550de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,514,486	117,514,550
essv20846146	Submitted genomic		NC_000007.13:g.117 154540_117154604de l	GRCh37 (hg19)		NC_000007.13	Chr7	117,154,540	117,154,604

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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