A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576791



Internal ID18358303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18217755..18242206hg38UCSC Ensembl
InnerchrX:18235875..18260326hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3824452
hg1924452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2231e212
Supporting Variantsessv9824063, essv9824062, essv9824067, essv9824061, essv9824064, essv9824065
Samples401806DL, 400737GC, 400834SS, 400493KH, 401054VM, 400238BB
Known GenesBEND2, SCML2
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)esv3576791
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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