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dbVar

Database of genomic structural variation

esv2760332

Organism: Homo sapiens

Study:estd203 (Vogler et al. 2010)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:135,422

Publication(s):Vogler et al. 2010

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

Remapped(Score: Perfect):46,262,865-46,398,286

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Outer Stop
esv2760332	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	46,262,865	46,398,286
esv2760332	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	46,732,068	46,867,489
esv2760332	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000014.7	Chr14	45,801,818	45,937,239

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7022183	copy number loss	RW_0276	SNP array	SNP genotyping analysis	46
essv7022184	copy number gain	RW_0632	SNP array	SNP genotyping analysis	33

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7022183	Remapped	Perfect	NC_000014.9:g.(?_4 6262865)_(46398286 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,262,865	46,398,286
essv7022184	Remapped	Perfect	NC_000014.9:g.(?_4 6340079)_(46398286 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,340,079	46,398,286
essv7022183	Remapped	Perfect	NC_000014.8:g.(?_4 6732068)_(46867489 _?)del	GRCh37.p13	First Pass	NC_000014.8	Chr14	46,732,068	46,867,489
essv7022184	Remapped	Perfect	NC_000014.8:g.(?_4 6809282)_(46867489 _?)dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	46,809,282	46,867,489
essv7022183	Submitted genomic		NC_000014.7:g.(?_4 5801818)_(45937239 _?)del	NCBI36 (hg18)		NC_000014.7	Chr14	45,801,818	45,937,239
essv7022184	Submitted genomic		NC_000014.7:g.(?_4 5879032)_(45937239 _?)dup	NCBI36 (hg18)		NC_000014.7	Chr14	45,879,032	45,937,239

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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