A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2874n54



Internal ID18995050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111743274..111884680hg38UCSC Ensembl
chr12:112181078..112322484hg19UCSC Ensembl
chr12:110665461..110806867hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38141407
hg19141407
hg18141407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560215, nsv560217, nsv560216, nsv560214, nsv560218
SamplesHGDP00962
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2874n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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