A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582556



Internal ID18710754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17722667..17734682hg38UCSC Ensembl
Innerchr17:17625981..17637996hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3812016
hg1912016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv894e212
Supporting Variantsessv9812777, essv9812780, essv9812776, essv9812782, essv9812775, essv9812781, essv9812779
Samples401377MA, 401594MP, 400093BL, 401348RB, 401958MF, 400315DA, 400266BA
Known GenesRAI1
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)esv3582556
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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