A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4219n100



Internal ID20155835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:80652..461103hg38UCSC Ensembl
chr20:61293..441747hg19UCSC Ensembl
chr20:9293..389747hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38380452
hg19380455
hg18380455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060607, nsv1056057
Samples
Known GenesC20orf96, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, NRSN2, RBCK1, SOX12, TBC1D20, TRIB3, ZCCHC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4219n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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