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dbVar

Database of genomic structural variation

esv2830370

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:301,848

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: 668 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):15,120,701-15,422,548

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2830370	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	15,120,701	15,422,548
esv2830370	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	15,142,247	15,444,094
esv2830370	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	15,098,823	15,400,670

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation
essv7099939	duplication	NL21	Oligo aCGH	Probe signal intensity	Seizure	Uncertain significance	Submitter
essv7099940	duplication	NL22	Oligo aCGH	Probe signal intensity	Seizure	Uncertain significance	Submitter

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7099939	Remapped	Perfect	NC_000011.10:g.(?_ 15120701)_(1542254 8_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	15,120,701	15,422,548
essv7099940	Remapped	Perfect	NC_000011.10:g.(?_ 15120701)_(1542254 8_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	15,120,701	15,422,548
essv7099939	Remapped	Perfect	NC_000011.9:g.(?_1 5142247)_(15444094 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	15,142,247	15,444,094
essv7099940	Remapped	Perfect	NC_000011.9:g.(?_1 5142247)_(15444094 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	15,142,247	15,444,094
essv7099939	Submitted genomic		NC_000011.8:g.(?_1 5098823)_(15400670 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	15,098,823	15,400,670
essv7099940	Submitted genomic		NC_000011.8:g.(?_1 5098823)_(15400670 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	15,098,823	15,400,670

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
essv7099939	NL21	NCBI36: NC_000011.8:g.(?_15098823)_(15400670_?)dup	duplication	paternal	Seizure	Uncertain significance	Submitter	Male
essv7099940	NL22	NCBI36: NC_000011.8:g.(?_15098823)_(15400670_?)dup	duplication	paternal	Seizure	Uncertain significance	Submitter	Male

No genotype data were submitted for this variant

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