A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790249



Internal ID19160307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55718783..55785344hg38UCSC Ensembl
Innerchr14:56185501..56252062hg19UCSC Ensembl
Innerchr14:55255254..55321815hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3866562
hg1966562
hg1866562
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=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790249
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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