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dbVar

Database of genomic structural variation

esv2678187

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:15,990

Description:High quality site
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: 550 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):80,225,370-80,241,359

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2678187	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	80,225,370	80,241,359
esv2678187	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	77,983,253	77,999,242

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5608275	deletion	SAMN00006589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv6495625	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv6551769	deletion	SAMN00006588	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,504

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5608275	Remapped	Perfect	NC_000018.10:g.802 25370_80241359delC	GRCh38.p12	First Pass	NC_000018.10	Chr18	80,225,370	80,241,359
essv6495625	Remapped	Perfect	NC_000018.10:g.802 25370_80241359delC	GRCh38.p12	First Pass	NC_000018.10	Chr18	80,225,370	80,241,359
essv6551769	Remapped	Perfect	NC_000018.10:g.802 25370_80241359delC	GRCh38.p12	First Pass	NC_000018.10	Chr18	80,225,370	80,241,359
essv5608275	Submitted genomic		NC_000018.9:g.7798 3253_77999242delC	GRCh37 (hg19)		NC_000018.9	Chr18	77,983,253	77,999,242
essv6495625	Submitted genomic		NC_000018.9:g.7798 3253_77999242delC	GRCh37 (hg19)		NC_000018.9	Chr18	77,983,253	77,999,242
essv6551769	Submitted genomic		NC_000018.9:g.7798 3253_77999242delC	GRCh37 (hg19)		NC_000018.9	Chr18	77,983,253	77,999,242

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6551769	7	SAMN00006588	SNP array	Probe signal intensity	Pass
essv5608275	7	SAMN00006589	SNP array	Probe signal intensity	Pass
essv6495625	7	SAMN00009117	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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