A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4001n54



Internal ID22771896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105543235..105723956hg38UCSC Ensembl
chr14:106009572..106190293hg19UCSC Ensembl
chr14:105080617..105261338hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38180722
hg19180722
hg18180722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv566287, nsv566283, nsv566293, nsv566284, nsv566300, nsv566297, nsv566279, nsv566288, nsv566282
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4001n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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