A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577867



Internal ID18359379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627539..54630796hg38UCSC Ensembl
Innerchr1:55093212..55096469hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383258
hg193258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37e212
Supporting Variantsessv9766879, essv9766856, essv9766823, essv9766834, essv9766845, essv9766890, essv9766868, essv9766912, essv9766923, essv9766901
Samples401249TP, 401842BJ, 401550SP, 400381CA, 400361HC, 401696CG, 400795CL, 400158FB, 401571SD, 400013TA
Known GenesACOT11
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)esv3577867
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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