A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4426n100



Internal ID20156042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34339322..34534919hg38UCSC Ensembl
chr21:35711621..35907217hg19UCSC Ensembl
chr21:34633491..34829087hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38195598
hg19195597
hg18195597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065540, nsv1058056, nsv1062402, nsv1058645, nsv1058046, nsv1061535, nsv1055474, nsv1061358, nsv1058657, nsv1067275
Samples
Known GenesC21orf140, KCNE1, KCNE2, RCAN1, SMIM11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4426n100
Frequency
Sample Size29084
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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