A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4299n100



Internal ID20155915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31247234..31436365hg38UCSC Ensembl
chr20:29835037..30024168hg19UCSC Ensembl
chr20:29298698..29487829hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38189132
hg19189132
hg18189132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065102, nsv1058516
Samples
Known GenesDEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4299n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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