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dbVar

Database of genomic structural variation

esv2830407

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:378,672

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: 1566 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):13,793,518-14,172,189

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2830407	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	13,793,518	14,172,189
esv2830407	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	13,793,627	14,172,298
esv2830407	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	13,846,627	14,225,298

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
essv7099977	duplication	NL51	Oligo aCGH	Probe signal intensity	Seizure	Likely pathogenic	Submitter	essv7099930

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7099977	Remapped	Perfect	NC_000005.10:g.(?_ 13793518)_(1417218 9_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	13,793,518	14,172,189
essv7099977	Remapped	Perfect	NC_000005.9:g.(?_1 3793627)_(14172298 _?)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	13,793,627	14,172,298
essv7099977	Submitted genomic		NC_000005.8:g.(?_1 3846627)_(14225298 _?)dup	NCBI36 (hg18)		NC_000005.8	Chr5	13,846,627	14,225,298

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
essv7099977	NL51	NCBI36: NC_000005.8:g.(?_13846627)_(14225298_?)dup	duplication	maternal	Seizure	Likely pathogenic	Submitter	Male	essv7099930

No genotype data were submitted for this variant

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