A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5286n100



Internal ID20156902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68560718..68623605hg38UCSC Ensembl
chr4:69426436..69489323hg19UCSC Ensembl
chr4:69109031..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3862888
hg1962888
hg1862888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010832, nsv1006865, nsv1012351, nsv1011905, nsv1015130
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)dgv5286n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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