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dbVar

Database of genomic structural variation

esv2757325

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:22,146

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: 314 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):21,281,545-21,303,690

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757325	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	21,281,545	21,303,690
esv2757325	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	21,281,544	21,303,689
esv2757325	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	21,271,544	21,293,689

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv8697	copy number loss	NA18912	SNP array	SNP genotyping analysis	125
essv13495	copy number loss	NA18914	SNP array	SNP genotyping analysis	96

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv8697	Remapped	Perfect	NC_000009.12:g.(21 281545_21289321)_( 21296369_21303690) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	21,281,545	21,289,321	21,296,369	21,303,690
essv13495	Remapped	Perfect	NC_000009.12:g.(21 281545_21289321)_( 21303690_21303690) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	21,281,545	21,289,321	21,303,690	21,303,690
essv8697	Remapped	Perfect	NC_000009.11:g.(21 281544_21289320)_( 21296368_21303689) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	21,281,544	21,289,320	21,296,368	21,303,689
essv13495	Remapped	Perfect	NC_000009.11:g.(21 281544_21289320)_( 21303689_21303689) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	21,281,544	21,289,320	21,303,689	21,303,689
essv8697	Submitted genomic		NC_000009.9:g.(212 71544_21279320)_(2 1286368_21293689)d el	NCBI35 (hg17)		NC_000009.9	Chr9	21,271,544	21,279,320	21,286,368	21,293,689
essv13495	Submitted genomic		NC_000009.9:g.(212 71544_21279320)_(2 1293689_21293689)d el	NCBI35 (hg17)		NC_000009.9	Chr9	21,271,544	21,279,320	21,293,689	21,293,689

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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