A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4220n100



Internal ID22790307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:80895..217034hg38UCSC Ensembl
chr20:61536..197675hg19UCSC Ensembl
chr20:9536..145675hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38136140
hg19136140
hg18136140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056268, nsv1064485
Samples
Known GenesDEFB125, DEFB126, DEFB127, DEFB128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4220n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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