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dbVar

Database of genomic structural variation

esv2762999

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:43,536

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

Remapped(Score: Perfect):53,162,565-53,206,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Outer Stop
esv2762999	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,162,565	53,206,100
esv2762999	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	53,665,818	53,709,353
esv2762999	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000019.8	Chr19	58,357,630	58,401,165

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7003676	copy number gain	SW_1043	SNP array	SNP genotyping analysis	55
essv7003677	copy number gain	SW_0673	SNP array	SNP genotyping analysis	49

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7003676	Remapped	Perfect	NC_000019.10:g.(?_ 53162565)_(5320610 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,162,565	53,206,100
essv7003677	Remapped	Perfect	NC_000019.10:g.(?_ 53178789)_(5320610 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,178,789	53,206,100
essv7003676	Remapped	Perfect	NC_000019.9:g.(?_5 3665818)_(53709353 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,665,818	53,709,353
essv7003677	Remapped	Perfect	NC_000019.9:g.(?_5 3682042)_(53709353 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,682,042	53,709,353
essv7003676	Submitted genomic		NC_000019.8:g.(?_5 8357630)_(58401165 _?)dup	NCBI36 (hg18)		NC_000019.8	Chr19	58,357,630	58,401,165
essv7003677	Submitted genomic		NC_000019.8:g.(?_5 8373854)_(58401165 _?)dup	NCBI36 (hg18)		NC_000019.8	Chr19	58,373,854	58,401,165

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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