A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892282



Internal ID19183102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131124981..131484705hg38UCSC Ensembl
Outerchr12:131124981..131484705hg38UCSC Ensembl
Innerchr12:131609526..131969250hg19UCSC Ensembl
Outerchr12:131609526..131969250hg19UCSC Ensembl
Innerchr12:130175479..130535203hg18UCSC Ensembl
Outerchr12:130175479..130535203hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38359725
hg19359725
hg18359725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788044
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892282
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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