A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583953



Internal ID18712151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97065383..97348019hg38UCSC Ensembl
Innerchr2:97731120..98025634hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38282637
hg19294515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1142e212
Supporting Variantsessv9829466
Samples400553PP
Known GenesANKRD36, FAHD2B, LOC100506076, LOC100506123
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)esv3583953
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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