A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7824n54



Internal ID20141248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34352440..34535115hg38UCSC Ensembl
chr21:35724739..35907413hg19UCSC Ensembl
chr21:34646609..34829283hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38182676
hg19182675
hg18182675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587424, nsv587425, nsv587426, nsv587423, nsv587427, nsv587421, nsv587422
Samples
Known GenesC21orf140, KCNE1, KCNE2, RCAN1, SMIM11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7824n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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