A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792272



Internal ID19182917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18223945..18516830hg38UCSC Ensembl
Innerchr14:19000422..19293307hg19UCSC Ensembl
Innerchr14:18070422..18363307hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38292886
hg19292886
hg18292886
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892456
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=71
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792272
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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