A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788111



Internal ID18823398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149854904..149933638hg38UCSC Ensembl
Innerchr7:149551993..149630727hg19UCSC Ensembl
Innerchr7:149182926..149261660hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3878735
hg1978735
hg1878735
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 Human OmniExpress
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788111
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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