A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3497n54



Internal ID18995673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18612747..19061863hg38UCSC Ensembl
chr14:19389224..19649523hg19UCSC Ensembl
chr14:18459224..18719523hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38449117
hg19260300
hg18260300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv563621, nsv563619, nsv563626, nsv563628, nsv563614, nsv563618, nsv563627, nsv563625, nsv563629, nsv563622, nsv563617
Samples
Known GenesLOC642426, POTEG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3497n54
Frequency
Sample Size17421
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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