A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792082



Internal ID19164775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55718783..55789933hg38UCSC Ensembl
Innerchr14:56185501..56256651hg19UCSC Ensembl
Innerchr14:55255254..55326404hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3871151
hg1971151
hg1871151
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892549
Supporting Variants
Samples
Known GenesLINC00520, RPL13AP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792082
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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