A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4392n100



Internal ID22790479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18680829..18711118hg38UCSC Ensembl
chr21:20053147..20083436hg19UCSC Ensembl
chr21:18975018..19005307hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3830290
hg1930290
hg1830290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066443, nsv1058108, nsv1067014, nsv1064392, nsv1066153, nsv1067168, nsv1063066, nsv1064355, nsv1058327, nsv1062241, nsv1065860, nsv1065924, nsv1062224, nsv1066882, nsv1059916, nsv1063327, nsv1063328, nsv1065450, nsv1055240
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4392n100
Frequency
Sample Size11257
Observed Gain193
Observed Loss0
Observed Complex0
Frequencyn/a


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