A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788132



Internal ID18820548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81154247..81267966hg38UCSC Ensembl
Innerchr16:81187852..81301571hg19UCSC Ensembl
Innerchr16:79745353..79859072hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38113720
hg19113720
hg18113720
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892912
Supporting Variants
Samples
Known GenesBCMO1, PKD1L2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=55
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788132
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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