A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788155



Internal ID19176793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37678971..38194590hg38UCSC Ensembl
Innerchr12:38072773..38588392hg19UCSC Ensembl
Innerchr12:36359040..36874659hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38515620
hg19515620
hg18515620
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892186
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788155
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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