A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788808



Internal ID18819581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149854904..149970181hg38UCSC Ensembl
Innerchr7:149551993..149667270hg19UCSC Ensembl
Innerchr7:149182926..149298203hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38115278
hg19115278
hg18115278
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891234
Supporting Variants
Samples
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788808
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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