A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1403n100



Internal ID20153019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20854798..21257155hg38UCSC Ensembl
chr12:21007732..21410089hg19UCSC Ensembl
chr12:20898999..21301356hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38402358
hg19402358
hg18402358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045460, nsv1048648
Samples
Known GenesSLCO1B1, SLCO1B3, SLCO1B7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1403n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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