A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575392



Internal ID18356904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43408185..43421777hg38UCSC Ensembl
Innerchr21:44828065..44841657hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813593
hg1913593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1274e212
Supporting Variantsessv9820428, essv9820427, essv9820429, essv9820430
Samples400113LD, 400218WK, 400983PV, 401618HR
Known GenesSIK1
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575392
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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