A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2869n54



Internal ID18995045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111538972..111541256hg38UCSC Ensembl
chr12:111976776..111979060hg19UCSC Ensembl
chr12:110461159..110463443hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382285
hg192285
hg182285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560193, nsv560186, nsv560194, nsv560185, nsv560195, nsv560184
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2869n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss125
Observed Complex0
Frequencyn/a


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