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dbVar

Database of genomic structural variation

esv2756921

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:104,619

Publication(s):Redon et al. 2006

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: 471 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):56,479,537-56,584,155

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2756921	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	56,479,537	56,584,155
esv2756921	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	56,706,672	56,811,290
esv2756921	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	56,618,323	56,722,941

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7983	copy number gain	NA19240	SNP array	SNP genotyping analysis	98
essv7905	copy number gain	NA19239	SNP array	SNP genotyping analysis	86
essv5691	copy number loss	NA18550	SNP array	SNP genotyping analysis	63

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv7983	Remapped	Perfect	NC_000002.12:g.(56 479537_56514481)_( 56516618_56543754) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	56,479,537	56,514,481	56,516,618	56,543,754
essv7905	Remapped	Perfect	NC_000002.12:g.(56 479537_56506900)_( 56519261_56523074) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	56,479,537	56,506,900	56,519,261	56,523,074
essv5691	Remapped	Perfect	NC_000002.12:g.(56 514481_56514616)_( 56584155_56584155) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	56,514,481	56,514,616	56,584,155	56,584,155
essv7983	Remapped	Perfect	NC_000002.11:g.(56 706672_56741616)_( 56743753_56770889) dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	56,706,672	56,741,616	56,743,753	56,770,889
essv7905	Remapped	Perfect	NC_000002.11:g.(56 706672_56734035)_( 56746396_56750209) dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	56,706,672	56,734,035	56,746,396	56,750,209
essv5691	Remapped	Perfect	NC_000002.11:g.(56 741616_56741751)_( 56811290_56811290) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	56,741,616	56,741,751	56,811,290	56,811,290
essv7983	Submitted genomic		NC_000002.9:g.(566 18323_56653267)_(5 6655404_56682540)d up	NCBI35 (hg17)		NC_000002.9	Chr2	56,618,323	56,653,267	56,655,404	56,682,540
essv7905	Submitted genomic		NC_000002.9:g.(566 18323_56645686)_(5 6658047_56661860)d up	NCBI35 (hg17)		NC_000002.9	Chr2	56,618,323	56,645,686	56,658,047	56,661,860
essv5691	Submitted genomic		NC_000002.9:g.(566 53267_56653402)_(5 6722941_56722941)d el	NCBI35 (hg17)		NC_000002.9	Chr2	56,653,267	56,653,402	56,722,941	56,722,941

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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