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dbVar

Database of genomic structural variation

esv1791728

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:155,097

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: 573 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):7,041,666-7,196,762

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
esv1791728	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	7,041,666	7,059,208	7,151,129	7,196,762
esv1791728	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	7,101,726	7,119,268	7,211,189	7,256,822
esv1791728	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	7,024,313	7,041,855	7,133,776	7,179,409

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number	Zygosity
essv4367668	copy number loss	1-1	Oligo aCGH	Probe signal intensity	Cerebellar Ataxia; Intellectual Disability	Likely pathogenic	Submitter	1	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
essv4367668	Remapped	Perfect	NC_000001.11:g.(70 41666_7059208)_(71 51129_7196762)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	7,041,666	7,059,208	7,151,129	7,196,762
essv4367668	Remapped	Perfect	NC_000001.10:g.(71 01726_7119268)_(72 11189_7256822)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	7,101,726	7,119,268	7,211,189	7,256,822
essv4367668	Submitted genomic		NC_000001.9:g.(702 4313_7041855)_(713 3776_7179409)del	NCBI36 (hg18)		NC_000001.9	Chr1	7,024,313	7,041,855	7,133,776	7,179,409

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv4367668	3	1-1	qPCR	Probe signal intensity	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Copy number
essv4367668	1-1	NCBI36: NC_000001.9:g.(7024313_7041855)_(7133776_7179409)del	copy number loss	Cerebellar Ataxia; Intellectual Disability	Likely pathogenic	Submitter	Unknown	1

No genotype data were submitted for this variant

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