A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788044



Internal ID19177550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131124981..131484705hg38UCSC Ensembl
Innerchr12:131609526..131969250hg19UCSC Ensembl
Innerchr12:130175479..130535203hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38359725
hg19359725
hg18359725
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892282
Supporting Variants
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=115
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788044
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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