A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2921n54



Internal ID20136345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747352..121748165hg38UCSC Ensembl
chr12:122185258..122186071hg19UCSC Ensembl
chr12:120669641..120670454hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560474, nsv560477, nsv560476, nsv560465, nsv560475, nsv560479, nsv560473, nsv560468, nsv560481
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2921n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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