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dbVar

Database of genomic structural variation

esv32780

Organism: Homo sapiens

Study:estd24 (de Smith et al. 2007)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:371

Publication(s):de Smith 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: 91 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):120,894,903-120,895,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv32780	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	120,894,903	120,895,273
esv32780	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	123,657,181	123,657,551
esv32780	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	120,736,735	120,737,105

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv100915	copy number loss	21693	Oligo aCGH	Probe signal intensity	187
essv98296	copy number gain	21772	Oligo aCGH	Probe signal intensity	211
essv98773	copy number gain	21606	Oligo aCGH	Probe signal intensity	282
essv99783	copy number gain	22086	Oligo aCGH	Probe signal intensity	362

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv100915	Remapped	Perfect	NC_000009.12:g.(12 0894434_120894903) _(120895273_120896 876)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	120,894,434	120,894,903	120,895,273	120,896,876
essv98296	Remapped	Perfect	NC_000009.12:g.(12 0894434_120894903) _(120895273_120896 876)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	120,894,434	120,894,903	120,895,273	120,896,876
essv98773	Remapped	Perfect	NC_000009.12:g.(12 0894434_120894903) _(120895273_120896 876)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	120,894,434	120,894,903	120,895,273	120,896,876
essv99783	Remapped	Perfect	NC_000009.12:g.(12 0894434_120894903) _(120895273_120896 876)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	120,894,434	120,894,903	120,895,273	120,896,876
essv100915	Remapped	Perfect	NC_000009.11:g.(12 3656712_123657181) _(123657551_123659 154)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	123,656,712	123,657,181	123,657,551	123,659,154
essv98296	Remapped	Perfect	NC_000009.11:g.(12 3656712_123657181) _(123657551_123659 154)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	123,656,712	123,657,181	123,657,551	123,659,154
essv98773	Remapped	Perfect	NC_000009.11:g.(12 3656712_123657181) _(123657551_123659 154)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	123,656,712	123,657,181	123,657,551	123,659,154
essv99783	Remapped	Perfect	NC_000009.11:g.(12 3656712_123657181) _(123657551_123659 154)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	123,656,712	123,657,181	123,657,551	123,659,154
essv100915	Submitted genomic		NC_000009.9:g.(120 736266_120736735)_ (120737105_1207387 08)del	NCBI35 (hg17)		NC_000009.9	Chr9	120,736,266	120,736,735	120,737,105	120,738,708
essv98296	Submitted genomic		NC_000009.9:g.(120 736266_120736735)_ (120737105_1207387 08)dup	NCBI35 (hg17)		NC_000009.9	Chr9	120,736,266	120,736,735	120,737,105	120,738,708
essv98773	Submitted genomic		NC_000009.9:g.(120 736266_120736735)_ (120737105_1207387 08)dup	NCBI35 (hg17)		NC_000009.9	Chr9	120,736,266	120,736,735	120,737,105	120,738,708
essv99783	Submitted genomic		NC_000009.9:g.(120 736266_120736735)_ (120737105_1207387 08)dup	NCBI35 (hg17)		NC_000009.9	Chr9	120,736,266	120,736,735	120,737,105	120,738,708

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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