A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2922n54



Internal ID20136346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747352..121748411hg38UCSC Ensembl
chr12:122185258..122186317hg19UCSC Ensembl
chr12:120669641..120670700hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381060
hg191060
hg181060
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560471, nsv560470
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2922n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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