A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568107



Internal ID18349619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14275087..14286933hg38UCSC Ensembl
Innerchr21:15647408..15659254hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3811847
hg1911847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1260e212
Supporting Variantsessv9820082, essv9820087, essv9820086, essv9820085, essv9820084, essv9820083
Samples401281BP, 401505WI, 401594MP, 401268PS, 400235MP, 401105WS
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)esv3568107
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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