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dbVar

Database of genomic structural variation

esv18933

Organism: Homo sapiens

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

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:168,263

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: 1147 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):130,044,909-130,213,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv18933	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	130,044,909	130,213,171
esv18933	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	129,763,752	129,932,014
esv18933	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	131,246,442	131,414,704

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv35045	copy number gain	NA18502	Oligo aCGH	Probe signal intensity	1,373
essv35893	copy number gain	NA18907	Oligo aCGH	Probe signal intensity	1,412
essv68023	copy number gain	NA18858	Oligo aCGH	Probe signal intensity	1,507

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv35045	Remapped	Perfect	NC_000003.12:g.(?_ 130044909)_(130190 360_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,909	130,190,360
essv35893	Remapped	Perfect	NC_000003.12:g.(?_ 130045029)_(130204 193_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,045,029	130,204,193
essv68023	Remapped	Perfect	NC_000003.12:g.(?_ 130045029)_(130213 171_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,045,029	130,213,171
essv35045	Remapped	Perfect	NC_000003.11:g.(?_ 129763752)_(129909 203_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,763,752	129,909,203
essv35893	Remapped	Perfect	NC_000003.11:g.(?_ 129763872)_(129923 036_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,763,872	129,923,036
essv68023	Remapped	Perfect	NC_000003.11:g.(?_ 129763872)_(129932 014_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,763,872	129,932,014
essv35045	Submitted genomic		NC_000003.10:g.(?_ 131246442)_(131391 893_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,246,442	131,391,893
essv35893	Submitted genomic		NC_000003.10:g.(?_ 131246562)_(131405 726_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,246,562	131,405,726
essv68023	Submitted genomic		NC_000003.10:g.(?_ 131246562)_(131414 704_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,246,562	131,414,704

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv35045	2	NA18502	Oligo aCGH	Probe signal intensity	Pass
essv68023	2	NA18858	Oligo aCGH	Probe signal intensity	Pass
essv35893	2	NA18907	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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