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dbVar

Database of genomic structural variation

esv3601131

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:30,335

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: 284 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):79,944,001-79,974,335

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3601131	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	79,944,001	79,974,335
esv3601131	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	80,865,155	80,895,489

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11516648	deletion	SAMN01036710	Sequencing	Read depth and paired-end mapping	Heterozygous	3,268
essv11516649	deletion	SAMN00007941	Sequencing	Read depth and paired-end mapping	Heterozygous	2,481

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11516648	Remapped	Perfect	NC_000004.12:g.799 44001_79974335del	GRCh38.p12	First Pass	NC_000004.12	Chr4	79,944,001	79,974,335
essv11516649	Remapped	Perfect	NC_000004.12:g.799 44001_79974335del	GRCh38.p12	First Pass	NC_000004.12	Chr4	79,944,001	79,974,335
essv11516648	Submitted genomic		NC_000004.11:g.808 65155_80895489del	GRCh37 (hg19)		NC_000004.11	Chr4	80,865,155	80,895,489
essv11516649	Submitted genomic		NC_000004.11:g.808 65155_80895489del	GRCh37 (hg19)		NC_000004.11	Chr4	80,865,155	80,895,489

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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