A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792277



Internal ID19179747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19277698..19389229hg38UCSC Ensembl
Innerchr12:19430632..19542163hg19UCSC Ensembl
Innerchr12:19321899..19433430hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38111532
hg19111532
hg18111532
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892157
Supporting Variants
Samples
Known GenesPLEKHA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792277
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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