A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4298n100



Internal ID22790385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31247234..31382110hg38UCSC Ensembl
chr20:29835037..29969913hg19UCSC Ensembl
chr20:29298698..29433574hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38134877
hg19134877
hg18134877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060247, nsv1063413
Samples
Known GenesDEFB115, DEFB116, DEFB118, DEFB119
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4298n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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