A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5293n100



Internal ID19015661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68813165..68858049hg38UCSC Ensembl
chr4:69678883..69723767hg19UCSC Ensembl
chr4:69713472..69758356hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3844885
hg1944885
hg1844885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007139, nsv1000723, nsv1004704, nsv1014651, nsv998687, nsv1007447, nsv1000898
Samples
Known GenesUGT2B10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5293n100
Frequency
Sample Size29084
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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