A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv188e212



Internal ID22783115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17839524..17910872hg38UCSC Ensembl
chr10:18106430..18199801hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3871349
hg1993372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578697, esv3578692, esv3578695, esv3578672
Samples401212HJ, 40031BA, 400797ST, 400241CP, 401019MP, 400227MM, 401029SD, 400002HK, 401714BM, 400914ER, 401010HT, 401111LH
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)dgv188e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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