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dbVar

Database of genomic structural variation

esv3829560

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:10,937

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: 130 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):21,733,414-21,744,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3829560	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	21,733,650 (-236, +0)	21,744,586 (-0, +212)
esv3829560	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	21,775,142 (-236, +0)	21,786,078 (-0, +212)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18219795	deletion	HG00258	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,495

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18219795	Remapped	Perfect	NC_000003.12:g.(21 733414_21733650)_( 21744586_21744798) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	21,733,650 (-236, +0)	21,744,586 (-0, +212)
essv18219795	Submitted genomic		NC_000003.11:g.(21 774906_21775142)_( 21786078_21786290) del	GRCh37 (hg19)		NC_000003.11	Chr3	21,775,142 (-236, +0)	21,786,078 (-0, +212)

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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