A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573638



Internal ID18701836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:21938663..21946703hg38UCSC Ensembl
InnerchrX:21956781..21964821hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg388041
hg198041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9824148, essv9824143, essv9824147, essv9824149, essv9824145, essv9824150, essv9824146
Samples401212HJ, 400455SJ, 400509CJ, 401582GG, 400675HC, 401965TG, 400846MC
Known GenesSMS
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)esv3573638
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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