A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892229



Internal ID18836363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79763771..79981283hg38UCSC Ensembl
Outerchr12:79763771..79981283hg38UCSC Ensembl
Innerchr12:80157551..80375063hg19UCSC Ensembl
Outerchr12:80157551..80375063hg19UCSC Ensembl
Innerchr12:78681682..78899194hg18UCSC Ensembl
Outerchr12:78681682..78899194hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38217513
hg19217513
hg18217513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797155
Samples
Known GenesPPP1R12A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892229
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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