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dbVar

Database of genomic structural variation

esv2830385

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:109,079

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: 525 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):82,807,730-82,916,808

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2830385	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	82,807,730	82,916,808
esv2830385	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	82,841,335	82,950,413
esv2830385	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	81,398,836	81,507,914

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
essv7099955	deletion	NL35	Oligo aCGH	Probe signal intensity	Seizure	Uncertain significance	Submitter	essv7099981

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7099955	Remapped	Perfect	NC_000016.10:g.(?_ 82807730)_(8291680 8_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	82,807,730	82,916,808
essv7099955	Remapped	Perfect	NC_000016.9:g.(?_8 2841335)_(82950413 _?)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	82,841,335	82,950,413
essv7099955	Submitted genomic		NC_000016.8:g.(?_8 1398836)_(81507914 _?)del	NCBI36 (hg18)		NC_000016.8	Chr16	81,398,836	81,507,914

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
essv7099955	NL35	NCBI36: NC_000016.8:g.(?_81398836)_(81507914_?)del	deletion	Seizure	Uncertain significance	Submitter	Male	essv7099981

No genotype data were submitted for this variant

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