A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2871n54



Internal ID18995047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111538972..111547818hg38UCSC Ensembl
chr12:111976776..111985622hg19UCSC Ensembl
chr12:110461159..110470005hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg388847
hg198847
hg188847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560200, nsv560191
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2871n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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