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

dbVar

Database of genomic structural variation

esv2662662

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:12,042

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: 151 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):88,418,891-88,430,932

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2662662	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	88,418,891	88,419,048	88,430,779	88,430,932
esv2662662	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	88,468,041	88,468,198	88,479,929	88,480,082

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5497020	deletion	SAMN00006478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,718
essv6136396	deletion	SAMN00000510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,141
essv6309858	deletion	SAMN00006556	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,746

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5497020	Remapped	Perfect	NC_000003.12:g.(88 418891_88419048)_( 88430779_88430932) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	88,418,891	88,419,048	88,430,779	88,430,932
essv6136396	Remapped	Perfect	NC_000003.12:g.(88 418891_88419048)_( 88430779_88430932) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	88,418,891	88,419,048	88,430,779	88,430,932
essv6309858	Remapped	Perfect	NC_000003.12:g.(88 418891_88419048)_( 88430779_88430932) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	88,418,891	88,419,048	88,430,779	88,430,932
essv5497020	Submitted genomic		NC_000003.11:g.(88 468041_88468198)_( 88479929_88480082) del	GRCh37 (hg19)		NC_000003.11	Chr3	88,468,041	88,468,198	88,479,929	88,480,082
essv6136396	Submitted genomic		NC_000003.11:g.(88 468041_88468198)_( 88479929_88480082) del	GRCh37 (hg19)		NC_000003.11	Chr3	88,468,041	88,468,198	88,479,929	88,480,082
essv6309858	Submitted genomic		NC_000003.11:g.(88 468041_88468198)_( 88479929_88480082) del	GRCh37 (hg19)		NC_000003.11	Chr3	88,468,041	88,468,198	88,479,929	88,480,082

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6136396	9	SAMN00000510	Oligo aCGH	Probe signal intensity	Pass
essv5497020	9	SAMN00006478	Oligo aCGH	Probe signal intensity	Pass
essv6309858	9	SAMN00006556	Oligo aCGH	Probe signal intensity	Pass
essv6136396	7	SAMN00000510	SNP array	Probe signal intensity	Pass
essv5497020	7	SAMN00006478	SNP array	Probe signal intensity	Pass
essv6309858	7	SAMN00006556	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