A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2269n54



Internal ID20135693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1593304..1594567hg38UCSC Ensembl
chr12:1702470..1703733hg19UCSC Ensembl
chr12:1572731..1573994hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381264
hg191264
hg181264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556980, nsv556987
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2269n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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