A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2867n54



Internal ID20136291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111536476..111541704hg38UCSC Ensembl
chr12:111974280..111979508hg19UCSC Ensembl
chr12:110458663..110463891hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg385229
hg195229
hg185229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560182, nsv560179, nsv560180, nsv560181
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2867n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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