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dbVar

Database of genomic structural variation

esv3594892

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:32,130

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 619 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):239,032-271,209

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3594892	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	239,056 (-24, +24)	271,185 (-24, +24)
esv3594892	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	280,739 (-24, +24)	312,868 (-24, +24)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10897465	deletion	SAMN00263025	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756
essv10897466	deletion	SAMN01036713	Sequencing	Read depth and paired-end mapping	Heterozygous	3,109

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10897465	Remapped	Perfect	NC_000003.12:g.(23 9032_239080)_(2711 61_271209)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	239,056 (-24, +24)	271,185 (-24, +24)
essv10897466	Remapped	Perfect	NC_000003.12:g.(23 9032_239080)_(2711 61_271209)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	239,056 (-24, +24)	271,185 (-24, +24)
essv10897465	Submitted genomic		NC_000003.11:g.(28 0715_280763)_(3128 44_312892)del	GRCh37 (hg19)		NC_000003.11	Chr3	280,739 (-24, +24)	312,868 (-24, +24)
essv10897466	Submitted genomic		NC_000003.11:g.(28 0715_280763)_(3128 44_312892)del	GRCh37 (hg19)		NC_000003.11	Chr3	280,739 (-24, +24)	312,868 (-24, +24)

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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