A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2926n54



Internal ID18995102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123635436..123711309hg38UCSC Ensembl
chr12:124119983..124195856hg19UCSC Ensembl
chr12:122685936..122761809hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3875874
hg1975874
hg1875874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560497, nsv560496, nsv560498
SamplesNINDS_10
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2926n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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