A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4323n100



Internal ID20155939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49524114..49618211hg38UCSC Ensembl
chr20:48140651..48234748hg19UCSC Ensembl
chr20:47574058..47668155hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3894098
hg1994098
hg1894098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055699, nsv1065746
Samples
Known GenesPTGIS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4323n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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