Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv1947625

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:8,164

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

Remapped(Score: Perfect):21,367,292-21,375,455

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
esv1947625	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	21,367,292	21,367,469	21,375,284	21,375,455
esv1947625	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	21,368,915	21,369,092	21,376,907	21,377,078
esv1947625	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	20,978,013	20,978,190	20,986,005	20,986,176

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4779020	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
essv4779020	Remapped	Perfect	NC_000004.12:g.(21 367292_21367469)_( 21375284_21375455) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	21,367,292	21,367,469	21,375,284	21,375,455
essv4779020	Remapped	Perfect	NC_000004.11:g.(21 368915_21369092)_( 21376907_21377078) del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,368,915	21,369,092	21,376,907	21,377,078
essv4779020	Submitted genomic		NC_000004.10:g.(20 978013_20978190)_( 20986005_20986176) del	NCBI36 (hg18)		NC_000004.10	Chr4	20,978,013	20,978,190	20,986,005	20,986,176

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

You are here: NCBI