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dbVar

Database of genomic structural variation

esv2758186

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:221,858

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: 1084 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):30,209,652-30,431,509

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2758186	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	30,209,652	30,431,509
esv2758186	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	30,209,650	30,431,507
esv2758186	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	30,199,650	30,421,507

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv10205	copy number gain	NA19152	BAC aCGH	Probe signal intensity	86
essv11709	copy number gain	NA19154	BAC aCGH	Probe signal intensity	139

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv10205	Remapped	Perfect	NC_000009.12:g.(?_ 30209652)_(3043150 9_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,209,652	30,431,509
essv11709	Remapped	Perfect	NC_000009.12:g.(?_ 30209652)_(3043150 9_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,209,652	30,431,509
essv10205	Remapped	Perfect	NC_000009.11:g.(?_ 30209650)_(3043150 7_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,209,650	30,431,507
essv11709	Remapped	Perfect	NC_000009.11:g.(?_ 30209650)_(3043150 7_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,209,650	30,431,507
essv10205	Submitted genomic		NC_000009.9:g.(?_3 0199650)_(30421507 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,199,650	30,421,507
essv11709	Submitted genomic		NC_000009.9:g.(?_3 0199650)_(30421507 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,199,650	30,421,507

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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