A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788094



Internal ID19174161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42419688..42630633hg38UCSC Ensembl
Innerchr6:42387426..42598371hg19UCSC Ensembl
Innerchr6:42495404..42706349hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38210946
hg19210946
hg18210946
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890843
Supporting Variants
Samples
Known GenesTRERF1, UBR2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788094
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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