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dbVar

Database of genomic structural variation

esv15948

Organism: Homo sapiens

Study:estd20 (Conrad et al. 2009)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:20,219

Publication(s):Conrad et al. 2009

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: 402 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):153,781,660-153,801,878

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv15948	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	153,781,660	153,801,878
esv15948	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	153,478,745	153,498,963
esv15948	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	153,109,678	153,129,896

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv54542	copy number loss	NA19099	Oligo aCGH	Probe signal intensity	1,498
essv82760	copy number loss	NA19190	Oligo aCGH	Probe signal intensity	1,600
essv43845	copy number loss	NA18909	Oligo aCGH	Probe signal intensity	1,535

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv54542	Remapped	Perfect	NC_000007.14:g.(?_ 153781660)_(153801 878_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,781,660	153,801,878
essv82760	Remapped	Perfect	NC_000007.14:g.(?_ 153782504)_(153800 499_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,782,504	153,800,499
essv43845	Remapped	Perfect	NC_000007.14:g.(?_ 153782561)_(153801 790_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,782,561	153,801,790
essv54542	Remapped	Perfect	NC_000007.13:g.(?_ 153478745)_(153498 963_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,478,745	153,498,963
essv82760	Remapped	Perfect	NC_000007.13:g.(?_ 153479589)_(153497 584_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,479,589	153,497,584
essv43845	Remapped	Perfect	NC_000007.13:g.(?_ 153479646)_(153498 875_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,479,646	153,498,875
essv54542	Submitted genomic		NC_000007.12:g.(?_ 153109678)_(153129 896_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	153,109,678	153,129,896
essv82760	Submitted genomic		NC_000007.12:g.(?_ 153110522)_(153128 517_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	153,110,522	153,128,517
essv43845	Submitted genomic		NC_000007.12:g.(?_ 153110579)_(153129 808_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	153,110,579	153,129,808

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv43845	2	NA18909	Oligo aCGH	Probe signal intensity	Pass
essv54542	2	NA19099	Oligo aCGH	Probe signal intensity	Pass
essv82760	2	NA19190	Oligo aCGH	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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