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dbVar

Database of genomic structural variation

esv3865933

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:9,064

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: 279 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):129,805,484-129,814,924

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3865933	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	129,805,681 (-197, +0)	129,814,744 (-0, +180)
esv3865933	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	129,675,576 (-197, +0)	129,684,639 (-0, +180)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22618293	deletion	HG00261	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,277
essv22618294	deletion	NA19038	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,670

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22618293	Remapped	Perfect	NC_000011.10:g.(12 9805484_129805681) _(129814744_129814 924)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	129,805,681 (-197, +0)	129,814,744 (-0, +180)
essv22618294	Remapped	Perfect	NC_000011.10:g.(12 9805484_129805681) _(129814744_129814 924)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	129,805,681 (-197, +0)	129,814,744 (-0, +180)
essv22618293	Submitted genomic		NC_000011.9:g.(129 675379_129675576)_ (129684639_1296848 19)del	GRCh37 (hg19)		NC_000011.9	Chr11	129,675,576 (-197, +0)	129,684,639 (-0, +180)
essv22618294	Submitted genomic		NC_000011.9:g.(129 675379_129675576)_ (129684639_1296848 19)del	GRCh37 (hg19)		NC_000011.9	Chr11	129,675,576 (-197, +0)	129,684,639 (-0, +180)

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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