A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2399n54



Internal ID20135823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20846411..20864102hg38UCSC Ensembl
chr12:20999345..21017036hg19UCSC Ensembl
chr12:20890612..20908303hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3817692
hg1917692
hg1817692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557705, nsv557706
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2399n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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