A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2402n54



Internal ID18994578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20864102..20883599hg38UCSC Ensembl
chr12:21017036..21036533hg19UCSC Ensembl
chr12:20908303..20927800hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3819498
hg1919498
hg1819498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557713, nsv557712, nsv557711
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2402n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer