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dbVar

Database of genomic structural variation

esv2830388

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:875,948

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: 7735 SVs from 65 studies. See in: genome view

Remapped(Score: Pass):10,891-886,838

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2830388	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	10,891	886,838
esv2830388	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	60,891	803,877
esv2830388	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	891	767,573

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
essv7099959	deletion	D34	SNP array	SNP genotyping analysis	Seizure	Pathogenic	Submitter	essv7099926, essv7099925, essv7100009

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7099959	Remapped	Pass	NC_000023.11:g.(?_ 10891)_(886838_?)d el	GRCh38.p12	First Pass	NC_000023.11	ChrX	10,891	886,838
essv7099959	Remapped	Good	NC_000023.10:g.(?_ 60891)_(803877_?)d el	GRCh37.p13	First Pass	NC_000023.10	ChrX	60,891	803,877
essv7099959	Submitted genomic		NC_000023.9:g.(?_8 91)_(767573_?)del	NCBI36 (hg18)		NC_000023.9	ChrX	891	767,573

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
essv7099959	D34	NCBI36: NC_000023.9:g.(?_891)_(767573_?)del	deletion	de novo	Seizure	Pathogenic	Submitter	Female	essv7099926, essv7099925, essv7100009

No genotype data were submitted for this variant

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