A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789552



Internal ID18827668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53543177..54476363hg38UCSC Ensembl
Innerchr13:54117312..55050498hg19UCSC Ensembl
Innerchr13:53015313..53948499hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38933187
hg19933187
hg18933187
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892347
Supporting Variants
Samples
Known GenesLINC00458, LINC00558, MIR1297
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=209
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789552
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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