A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792152



Internal ID19167715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55808492..55829137hg38UCSC Ensembl
Innerchr16:55842404..55863049hg19UCSC Ensembl
Innerchr16:54399905..54420550hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3820646
hg1920646
hg1820646
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892862
Supporting Variants
Samples
Known GenesCES1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792152
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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