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dbVar

Database of genomic structural variation

esv2752306

Organism: Homo sapiens

Study:estd55 (Pinto et al. 2007)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:453,156

Description:Sample level SV from stringent call set
Publication(s):Pinto et al. 2007

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: 3596 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):46,431-499,586

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2752306	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	46,431	499,586
esv2752306	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	46,431	499,586
esv2752306	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	36,431	489,586

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6980755	copy number gain	BEC_131	SNP array	SNP genotyping analysis	31
essv6985398	copy number gain	BEC_131	SNP array	SNP genotyping analysis	31
essv6980756	copy number gain	BEC_131	SNP array	SNP genotyping analysis	31
essv6985399	copy number gain	BEC_131	SNP array	SNP genotyping analysis	31
essv6990524	copy number gain	BEC_131	SNP array	SNP genotyping analysis	31

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6980755	Remapped	Perfect	NC_000009.12:g.(?_ 46431)_(497479_?)d up	GRCh38.p12	First Pass	NC_000009.12	Chr9	46,431	497,479
essv6985398	Remapped	Perfect	NC_000009.12:g.(?_ 46431)_(497479_?)d up	GRCh38.p12	First Pass	NC_000009.12	Chr9	46,431	497,479
essv6980756	Remapped	Perfect	NC_000009.12:g.(?_ 242797)_(499586_?) dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	242,797	499,586
essv6985399	Remapped	Perfect	NC_000009.12:g.(?_ 242797)_(499586_?) dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	242,797	499,586
essv6990524	Remapped	Perfect	NC_000009.12:g.(?_ 242797)_(499586_?) dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	242,797	499,586
essv6980755	Remapped	Perfect	NC_000009.11:g.(?_ 46431)_(497479_?)d up	GRCh37.p13	First Pass	NC_000009.11	Chr9	46,431	497,479
essv6985398	Remapped	Perfect	NC_000009.11:g.(?_ 46431)_(497479_?)d up	GRCh37.p13	First Pass	NC_000009.11	Chr9	46,431	497,479
essv6980756	Remapped	Perfect	NC_000009.11:g.(?_ 242797)_(499586_?) dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	242,797	499,586
essv6985399	Remapped	Perfect	NC_000009.11:g.(?_ 242797)_(499586_?) dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	242,797	499,586
essv6990524	Remapped	Perfect	NC_000009.11:g.(?_ 242797)_(499586_?) dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	242,797	499,586
essv6980755	Submitted genomic		NC_000009.9:g.(?_3 6431)_(487479_?)du p	NCBI35 (hg17)		NC_000009.9	Chr9	36,431	487,479
essv6985398	Submitted genomic		NC_000009.9:g.(?_3 6431)_(487479_?)du p	NCBI35 (hg17)		NC_000009.9	Chr9	36,431	487,479
essv6980756	Submitted genomic		NC_000009.9:g.(?_2 32797)_(489586_?)d up	NCBI35 (hg17)		NC_000009.9	Chr9	232,797	489,586
essv6985399	Submitted genomic		NC_000009.9:g.(?_2 32797)_(489586_?)d up	NCBI35 (hg17)		NC_000009.9	Chr9	232,797	489,586
essv6990524	Submitted genomic		NC_000009.9:g.(?_2 32797)_(489586_?)d up	NCBI35 (hg17)		NC_000009.9	Chr9	232,797	489,586

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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