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dbVar

Database of genomic structural variation

esv2757615

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:22,826

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: 309 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):93,253,539-93,276,364

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757615	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	93,253,539	93,276,364
esv2757615	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	93,796,768	93,819,593
esv2757615	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000015.8	Chr15	91,597,772	91,620,597

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv19025	copy number loss	NA07034	SNP array	SNP genotyping analysis	84
essv11473	copy number gain	NA18856	SNP array	SNP genotyping analysis	100

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv19025	Remapped	Perfect	NC_000015.10:g.(93 253539_93261759)_( 93276364_93276364) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	93,253,539	93,261,759	93,276,364	93,276,364
essv11473	Remapped	Perfect	NC_000015.10:g.(93 268302_93268302)_( 93276364_93276364) dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	93,268,302	93,268,302	93,276,364	93,276,364
essv19025	Remapped	Perfect	NC_000015.9:g.(937 96768_93804988)_(9 3819593_93819593)d el	GRCh37.p13	First Pass	NC_000015.9	Chr15	93,796,768	93,804,988	93,819,593	93,819,593
essv11473	Remapped	Perfect	NC_000015.9:g.(938 11531_93811531)_(9 3819593_93819593)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	93,811,531	93,811,531	93,819,593	93,819,593
essv19025	Submitted genomic		NC_000015.8:g.(915 97772_91605992)_(9 1620597_91620597)d el	NCBI35 (hg17)		NC_000015.8	Chr15	91,597,772	91,605,992	91,620,597	91,620,597
essv11473	Submitted genomic		NC_000015.8:g.(916 12535_91612535)_(9 1620597_91620597)d up	NCBI35 (hg17)		NC_000015.8	Chr15	91,612,535	91,612,535	91,620,597	91,620,597

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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