A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5272n100



Internal ID22791359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68524562..68592208hg38UCSC Ensembl
chr4:69390280..69457926hg19UCSC Ensembl
chr4:69072875..69140521hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3867647
hg1967647
hg1867647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008487, nsv1002547, nsv1012996
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5272n100
Frequency
Sample Size11257
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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