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dbVar

Database of genomic structural variation

esv2159853

Organism: Homo sapiens

Study:estd194 (Bentley et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:10,176

Publication(s):Bentley et al. 2008

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: 222 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):62,302,656-62,312,831

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
esv2159853	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	62,302,656	62,302,783	62,312,718	62,312,831
esv2159853	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	63,215,215	63,215,342	63,225,277	63,225,390
esv2159853	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	63,377,769	63,377,896	63,387,831	63,387,944

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4556179	deletion	NA18507	Sequencing	Paired-end mapping	504,912

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4556179	Remapped	Perfect	NC_000008.11:g.(62 302656_62302783)_( 62312718_62312831) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,656	62,302,783	62,312,718	62,312,831
essv4556179	Remapped	Perfect	NC_000008.10:g.(63 215215_63215342)_( 63225277_63225390) del	GRCh37.p13	First Pass	NC_000008.10	Chr8	63,215,215	63,215,342	63,225,277	63,225,390
essv4556179	Submitted genomic		NC_000008.9:g.(633 77769_63377896)_(6 3387831_63387944)d el	NCBI36 (hg18)		NC_000008.9	Chr8	63,377,769	63,377,896	63,387,831	63,387,944

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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