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dbVar

Database of genomic structural variation

esv3567990

Organism: Homo sapiens

Study:estd212 (Uddin et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:44,730

Publication(s):Uddin et al. 2014

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: 578 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):45,708,247-45,752,976

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3567990	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	45,708,247	45,752,976
esv3567990	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	44,336,886	44,381,615

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
essv9819683	copy number loss	SNP array	Probe signal intensity	1
essv9819684	copy number loss	SNP array	Probe signal intensity	1
essv9819685	copy number loss	SNP array	Probe signal intensity	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv9819683	Remapped	Perfect	NC_000020.11:g.(?_ 45708247)_(4575297 6_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,708,247	45,752,976
essv9819684	Remapped	Perfect	NC_000020.11:g.(?_ 45708247)_(4575297 6_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,708,247	45,752,976
essv9819685	Remapped	Perfect	NC_000020.11:g.(?_ 45708247)_(4575297 6_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,708,247	45,752,976
essv9819683	Submitted genomic		NC_000020.10:g.(?_ 44336886)_(4438161 5_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	44,336,886	44,381,615
essv9819684	Submitted genomic		NC_000020.10:g.(?_ 44336886)_(4438161 5_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	44,336,886	44,381,615
essv9819685	Submitted genomic		NC_000020.10:g.(?_ 44336886)_(4438161 5_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	44,336,886	44,381,615

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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