A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3723n54



Internal ID20137147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63308966..63391090hg38UCSC Ensembl
chr14:63775684..63857808hg19UCSC Ensembl
chr14:62845437..62927561hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882125
hg1982125
hg1882125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv564901, nsv564898, nsv564899
Samples1780854257_A, 1780862274_A
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3723n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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