A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5246n100



Internal ID20156862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68394821..68581958hg38UCSC Ensembl
chr4:69260539..69447676hg19UCSC Ensembl
chr4:68943134..69130271hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38187138
hg19187138
hg18187138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012154, nsv999186, nsv1008787, nsv997247
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5246n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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