A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2919n54



Internal ID20136343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121739416..121747940hg38UCSC Ensembl
chr12:122177322..122185846hg19UCSC Ensembl
chr12:120661705..120670229hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388525
hg198525
hg188525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560460, nsv560461
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2919n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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