A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9110n54



Internal ID20142534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68567561..68631558hg38UCSC Ensembl
chr4:69433279..69497276hg19UCSC Ensembl
chr4:69115874..69179871hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3863998
hg1963998
hg1863998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594568, nsv594556, nsv594557, nsv594552, nsv594558, nsv594555, nsv594554, nsv594567, nsv594553
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9110n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss219
Observed Complex0
Frequencyn/a


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