A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2925n54



Internal ID20136349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747608..121748411hg38UCSC Ensembl
chr12:122185514..122186317hg19UCSC Ensembl
chr12:120669897..120670700hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560487, nsv560488, nsv560485
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2925n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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