A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5317n100



Internal ID22791404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69420178..69493414hg38UCSC Ensembl
chr4:70285896..70359132hg19UCSC Ensembl
chr4:70320485..70393721hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3873237
hg1973237
hg1873237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003378, nsv1012373
Samples
Known GenesUGT2B4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5317n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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