A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573919



Internal ID18702117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46270000..46292802hg38UCSC Ensembl
InnerchrX:46129435..46152237hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3822803
hg1922803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2284e212
Supporting Variantsessv9825576, essv9825577
Samples400114GR, 400953MR
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)esv3573919
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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