A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787936



Internal ID19174622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131578613..131683584hg38UCSC Ensembl
Innerchr12:132063158..132168129hg19UCSC Ensembl
Innerchr12:130629111..130734082hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38104972
hg19104972
hg18104972
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892283
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787936
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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