A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583980



Internal ID18712178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98967495..98994502hg38UCSC Ensembl
Innerchr2:99583958..99610965hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3827008
hg1927008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1155e212
Supporting Variantsessv9834344, essv9834366, essv9834355, essv9834311, essv9834322, essv9834333
Samples401117NA, 400083TG, 401927SK, 400620MT, 401203MP, 400532MH
Known Genes
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)esv3583980
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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