A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3046n54



Internal ID20136470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132481702..132614597hg38UCSC Ensembl
chr12:133058288..133191183hg19UCSC Ensembl
chr12:131568361..131701256hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38132896
hg19132896
hg18132896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561078, nsv561104
Samples1780862346_A
Known GenesFBRSL1, LRCOL1, MIR6763
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3046n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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