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dbVar

Database of genomic structural variation

esv3863449

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:11,345

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: 254 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):33,022,890-33,034,742

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3863449	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	33,023,135 (-245, +0)	33,034,479 (-0, +263)
esv3863449	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	33,044,681 (-245, +0)	33,056,025 (-0, +263)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22341240	deletion	HG01257	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,334
essv22341241	deletion	HG01372	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,363

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22341240	Remapped	Perfect	NC_000011.10:g.(33 022890_33023135)_( 33034479_33034742) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	33,023,135 (-245, +0)	33,034,479 (-0, +263)
essv22341241	Remapped	Perfect	NC_000011.10:g.(33 022890_33023135)_( 33034479_33034742) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	33,023,135 (-245, +0)	33,034,479 (-0, +263)
essv22341240	Submitted genomic		NC_000011.9:g.(330 44436_33044681)_(3 3056025_33056288)d el	GRCh37 (hg19)		NC_000011.9	Chr11	33,044,681 (-245, +0)	33,056,025 (-0, +263)
essv22341241	Submitted genomic		NC_000011.9:g.(330 44436_33044681)_(3 3056025_33056288)d el	GRCh37 (hg19)		NC_000011.9	Chr11	33,044,681 (-245, +0)	33,056,025 (-0, +263)

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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