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dbVar

Database of genomic structural variation

esv1791727

Organism: Homo sapiens

Study:estd186 (Thevenon et al. 2012)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Yes
Clinical Assertions: Yes
Region Size:584,084

Publication(s):Thevenon et al. 2012

Links to Other Resources

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: 1673 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):6,881,057-7,465,140

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv1791727	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	6,881,057	6,881,057	7,465,140	7,465,140
esv1791727	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	6,941,117	6,959,785	7,499,528	7,525,200
esv1791727	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	6,863,704	6,882,372	7,422,115	7,447,787

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number	Zygosity
essv4367669	copy number gain	2-1	Oligo aCGH	Probe signal intensity	Cerebellar Ataxia; Intellectual Disability	Likely pathogenic	Submitter	3	Heterozygous

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4367669	Remapped	Perfect	NC_000001.11:g.(68 81057_6881057)_(74 65140_7465140)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	6,881,057	6,881,057	7,465,140	7,465,140
essv4367669	Remapped	Perfect	NC_000001.10:g.(69 41117_6959785)_(74 99528_7525200)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	6,941,117	6,959,785	7,499,528	7,525,200
essv4367669	Submitted genomic		NC_000001.9:g.(686 3704_6882372)_(742 2115_7447787)dup	NCBI36 (hg18)		NC_000001.9	Chr1	6,863,704	6,882,372	7,422,115	7,447,787

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv4367669	3	2-1	qPCR	Probe signal intensity	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Copy number
essv4367669	2-1	NCBI36: NC_000001.9:g.(6863704_6882372)_(7422115_7447787)dup	copy number gain	Cerebellar Ataxia; Intellectual Disability	Likely pathogenic	Submitter	Unknown	3

No genotype data were submitted for this variant

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