A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2403n54



Internal ID20135827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20869933..20883599hg38UCSC Ensembl
chr12:21022867..21036533hg19UCSC Ensembl
chr12:20914134..20927800hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3813667
hg1913667
hg1813667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557715, nsv557716, nsv557714
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2403n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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