A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2270n54



Internal ID20135694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1593304..1594930hg38UCSC Ensembl
chr12:1702470..1704096hg19UCSC Ensembl
chr12:1572731..1574357hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381627
hg191627
hg181627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556989, nsv556983
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2270n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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