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dbVar

Database of genomic structural variation

esv2830405

Organism: Homo sapiens

Study:estd208 (Helbig et al. 2013)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:122,915

Publication(s):Helbig et al. 2013

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: 552 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):108,635,237-108,758,151

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2830405	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	108,635,237	108,758,151
esv2830405	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	107,878,467	108,001,381
esv2830405	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	107,765,123	107,888,037

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
essv7099975	duplication	NL27	Oligo aCGH	Probe signal intensity	Seizure	Uncertain significance	Submitter	essv7099948, essv7099976

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7099975	Remapped	Perfect	NC_000023.11:g.(?_ 108635237)_(108758 151_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	108,635,237	108,758,151
essv7099975	Remapped	Perfect	NC_000023.10:g.(?_ 107878467)_(108001 381_?)dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	107,878,467	108,001,381
essv7099975	Submitted genomic		NC_000023.9:g.(?_1 07765123)_(1078880 37_?)dup	NCBI36 (hg18)		NC_000023.9	ChrX	107,765,123	107,888,037

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
essv7099975	NL27	NCBI36: NC_000023.9:g.(?_107765123)_(107888037_?)dup	duplication	paternal	Seizure	Uncertain significance	Submitter	Female	essv7099948, essv7099976

No genotype data were submitted for this variant

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