A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2400n54



Internal ID20135824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20857114..20861335hg38UCSC Ensembl
chr12:21010048..21014269hg19UCSC Ensembl
chr12:20901315..20905536hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg384222
hg194222
hg184222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557707, nsv557708
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2400n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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