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dbVar

Database of genomic structural variation

esv1010082

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:21,664

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: 569 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):483,165-504,828

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv1010082	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187576.1	Chr8\|NT_18 7576.1	483,165	504,828
esv1010082	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000008.10	Chr8	2,247,955	2,269,618
esv1010082	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003571042.1	Chr8\|NW_00 3571042.1	282,566	304,229
esv1010082	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	2,235,362	2,257,025

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv3565187	deletion	HuRef	Sequencing	Paired-end mapping	23,887

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv3565187	Remapped	Perfect	NT_187576.1:g.(483 165_?)_(?_504828)d el	GRCh38.p12	First Pass	NT_187576.1	Chr8\|NT_18 7576.1	483,165	504,828
essv3565187	Remapped	Perfect	NW_003571042.1:g.( 282566_?)_(?_30422 9)del	GRCh37.p13	First Pass	NW_003571042.1	Chr8\|NW_00 3571042.1	282,566	304,229
essv3565187	Remapped	Perfect	NC_000008.10:g.(22 47955_?)_(?_226961 8)del	GRCh37.p13	Second Pass	NC_000008.10	Chr8	2,247,955	2,269,618
essv3565187	Submitted genomic		NC_000008.9:g.(223 5362_?)_(?_2257025 )del16254	NCBI36 (hg18)		NC_000008.9	Chr8	2,235,362	2,257,025

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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