A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2872n54



Internal ID18995048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111539966..111541256hg38UCSC Ensembl
chr12:111977770..111979060hg19UCSC Ensembl
chr12:110462153..110463443hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg381291
hg191291
hg181291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560207, nsv560202, nsv560206, nsv560210, nsv560201
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2872n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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