A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788233



Internal ID18825860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:81944149..81981408hg38UCSC Ensembl
Innerchr7:81573465..81610724hg19UCSC Ensembl
Innerchr7:81411401..81448660hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3837260
hg1937260
hg1837260
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891154
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788233
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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