Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2667078

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:85,529

Publication(s):1000 Genomes Project Consortium et al. 2012

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: 2694 SVs from 110 studies. See in: genome view

Remapped(Score: Perfect):29,916,720-30,002,248

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2667078	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	29,916,720	30,002,248
esv2667078	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	29,884,497	29,970,025

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5506776	deletion	SAMN00006546	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv5527009	deletion	SAMN00001160	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,151
essv6522095	deletion	SAMN00006570	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,706

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5506776	Remapped	Perfect	NC_000006.12:g.299 16720_30002248delG GTTTT	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,916,720	30,002,248
essv5527009	Remapped	Perfect	NC_000006.12:g.299 16720_30002248delG GTTTT	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,916,720	30,002,248
essv6522095	Remapped	Perfect	NC_000006.12:g.299 16720_30002248delG GTTTT	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,916,720	30,002,248
essv5506776	Submitted genomic		NC_000006.11:g.298 84497_29970025delG GTTTT	GRCh37 (hg19)		NC_000006.11	Chr6	29,884,497	29,970,025
essv5527009	Submitted genomic		NC_000006.11:g.298 84497_29970025delG GTTTT	GRCh37 (hg19)		NC_000006.11	Chr6	29,884,497	29,970,025
essv6522095	Submitted genomic		NC_000006.11:g.298 84497_29970025delG GTTTT	GRCh37 (hg19)		NC_000006.11	Chr6	29,884,497	29,970,025

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5527009	7	SAMN00001160	SNP array	Probe signal intensity	Pass
essv5506776	7	SAMN00006546	SNP array	Probe signal intensity	Pass
essv6522095	7	SAMN00006570	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI