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dbVar

Database of genomic structural variation

esv999575

Organism: Homo sapiens

Study:estd180 (Pang et al. 2010)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:32,476

Publication(s):Pang et al. 2010

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: 1235 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):2,656,341-2,688,816

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv999575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	2,656,341	2,688,816
esv999575	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187515.1	Chr1\|NT_18 7515.1	219,010	249,391
esv999575	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	2,587,780	2,620,255
esv999575	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	2,577,640	2,610,115

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv3575600	deletion	HuRef	Sequencing	Split read mapping	Homozygous	23,887

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv3575600	Remapped	Pass	NT_187515.1:g.2190 10_249391del32476	GRCh38.p12	Second Pass	NT_187515.1	Chr1\|NT_18 7515.1	219,010	249,391
essv3575600	Remapped	Perfect	NC_000001.11:g.265 6341_2688816del324 76	GRCh38.p12	First Pass	NC_000001.11	Chr1	2,656,341	2,688,816
essv3575600	Remapped	Perfect	NC_000001.10:g.258 7780_2620255del324 76	GRCh37.p13	First Pass	NC_000001.10	Chr1	2,587,780	2,620,255
essv3575600	Submitted genomic		NC_000001.9:g.2577 640_2610115del3247 6	NCBI36 (hg18)		NC_000001.9	Chr1	2,577,640	2,610,115

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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