A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797155



Internal ID18835388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79763771..79981283hg38UCSC Ensembl
Innerchr12:80157551..80375063hg19UCSC Ensembl
Innerchr12:78681682..78899194hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38217513
hg19217513
hg18217513
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892229
Supporting Variants
Samples
Known GenesPPP1R12A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797155
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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