A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578675



Internal ID18706873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:17839524..17934705hg38UCSC Ensembl
Innerchr10:18106430..18223634hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3895182
hg19117205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189e212
Supporting Variantsessv9792591, essv9792588, essv9792593, essv9792596, essv9792595, essv9792592, essv9792594, essv9792590, essv9792587
Samples401706BJ, 400336BG, 400203NA, 401104DM, 401406KF, 401504RJ, 400211BJ, 401361GG, 400266BA
Known GenesMIR511-1, MRC1
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)esv3578675
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer