A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2866n54



Internal ID20136290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111533429..111541870hg38UCSC Ensembl
chr12:111971233..111979674hg19UCSC Ensembl
chr12:110455616..110464057hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg388442
hg198442
hg188442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560173, nsv560175, nsv560178, nsv560177, nsv560176, nsv560174
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2866n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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