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dbVar

Database of genomic structural variation

esv3851058

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:14,251

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: 214 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):117,608,638-117,622,979

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3851058	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	117,608,683 (-45, +46)	117,622,933 (-45, +46)
esv3851058	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	117,248,737 (-45, +46)	117,262,987 (-45, +46)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20846150	deletion	HG01565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,752
essv20846151	deletion	HG02461	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,157

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20846150	Remapped	Perfect	NC_000007.14:g.(11 7608638_117608729) _(117622888_117622 979)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,608,683 (-45, +46)	117,622,933 (-45, +46)
essv20846151	Remapped	Perfect	NC_000007.14:g.(11 7608638_117608729) _(117622888_117622 979)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,608,683 (-45, +46)	117,622,933 (-45, +46)
essv20846150	Submitted genomic		NC_000007.13:g.(11 7248692_117248783) _(117262942_117263 033)del	GRCh37 (hg19)		NC_000007.13	Chr7	117,248,737 (-45, +46)	117,262,987 (-45, +46)
essv20846151	Submitted genomic		NC_000007.13:g.(11 7248692_117248783) _(117262942_117263 033)del	GRCh37 (hg19)		NC_000007.13	Chr7	117,248,737 (-45, +46)	117,262,987 (-45, +46)

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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