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dbVar

Database of genomic structural variation

esv18309

Organism: Homo sapiens

Study:estd20 (Conrad et al. 2009)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:37,268

Publication(s):Conrad et al. 2009

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

Remapped(Score: Perfect):61,518,833-61,556,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv18309	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	61,518,833	61,556,100
esv18309	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	44,726,671	44,763,938
esv18309	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	44,666,667	44,703,934

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv75248	copy number gain	NA12004	Oligo aCGH	Probe signal intensity	1,123
essv65688	copy number loss	NA19240	Oligo aCGH	Probe signal intensity	1,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv75248	Remapped	Perfect	NC_000009.12:g.(?_ 61518833)_(6155610 0_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	61,518,833	61,556,100
essv65688	Remapped	Perfect	NC_000009.12:g.(?_ 61521538)_(6155085 7_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	61,521,538	61,550,857
essv75248	Remapped	Perfect	NC_000009.11:g.(?_ 44726671)_(4476393 8_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	44,726,671	44,763,938
essv65688	Remapped	Perfect	NC_000009.11:g.(?_ 44729376)_(4475869 5_?)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	44,729,376	44,758,695
essv75248	Submitted genomic		NC_000009.10:g.(?_ 44666667)_(4470393 4_?)dup	NCBI36 (hg18)		NC_000009.10	Chr9	44,666,667	44,703,934
essv65688	Submitted genomic		NC_000009.10:g.(?_ 44669372)_(4469869 1_?)del	NCBI36 (hg18)		NC_000009.10	Chr9	44,669,372	44,698,691

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv75248	2	NA12004	Oligo aCGH	Probe signal intensity	Pass
essv65688	2	NA19240	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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