A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573959



Internal ID18355471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49935038..49940471hg38UCSC Ensembl
InnerchrX:49699648..49705081hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385434
hg195434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825762, essv9825761
Samples401856GC, 400450FG
Known GenesCLCN5
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)esv3573959
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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