A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787882



Internal ID18823643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111912373..112100908hg38UCSC Ensembl
Innerchr2:112669950..112858485hg19UCSC Ensembl
Innerchr2:112386421..112574956hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38188536
hg19188536
hg18188536
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893093
Supporting Variants
Samples
Known GenesMERTK, TMEM87B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787882
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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