A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5318n100



Internal ID20156934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69619810..69656037hg38UCSC Ensembl
chr4:70485528..70521755hg19UCSC Ensembl
chr4:70520117..70556344hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3836228
hg1936228
hg1836228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011989, nsv1012092, nsv1010353, nsv999993
Samples
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5318n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer