A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5276n100



Internal ID22791363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68544494..68623605hg38UCSC Ensembl
chr4:69410212..69489323hg19UCSC Ensembl
chr4:69092807..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3879112
hg1979112
hg1879112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003655, nsv1001907, nsv1010527
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)dgv5276n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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