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dbVar

Database of genomic structural variation

esv2298302

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:9,963

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: 358 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):72,153,993-72,163,955

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
esv2298302	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	72,153,993	72,154,091	72,163,849	72,163,955
esv2298302	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	72,863,696	72,863,794	72,873,552	72,873,658
esv2298302	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	72,920,417	72,920,515	72,930,273	72,930,379

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4580648	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
essv4580648	Remapped	Perfect	NC_000006.12:g.(72 153993_72154091)_( 72163849_72163955) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	72,153,993	72,154,091	72,163,849	72,163,955
essv4580648	Remapped	Perfect	NC_000006.11:g.(72 863696_72863794)_( 72873552_72873658) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,696	72,863,794	72,873,552	72,873,658
essv4580648	Submitted genomic		NC_000006.10:g.(72 920417_72920515)_( 72930273_72930379) del	NCBI36 (hg18)		NC_000006.10	Chr6	72,920,417	72,920,515	72,930,273	72,930,379

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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