A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568106



Internal ID18349618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14275087..14287941hg38UCSC Ensembl
Innerchr21:15647408..15660262hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3812855
hg1912855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1260e212
Supporting Variantsessv9820091, essv9820093, essv9820090, essv9820092
Samples400523GB, 400729HC, 400660GK, 400248JO
Known GenesABCC13
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)esv3568106
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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