A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788692



Internal ID19164646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:67030874..67188479hg38UCSC Ensembl
Innerchr12:67424654..67582259hg19UCSC Ensembl
Innerchr12:65710921..65868526hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38157606
hg19157606
hg18157606
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892214
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=61
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788692
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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