A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573924



Internal ID18702122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46847665..46850941hg38UCSC Ensembl
InnerchrX:46707100..46710376hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383277
hg193277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825594, essv9825597, essv9825604, essv9825601, essv9825588, essv9825599, essv9825595, essv9825591, essv9825590, essv9825603, essv9825593, essv9825587, essv9825592, essv9825596, essv9825602, essv9825598
Samples401640WJ, 400268SY, 401385BB, 400956AM, 401949MN, 401536BD, 401239PR, 401908YM, 402038MR, 401965TG, 401406KF, 401182OC, 400879DS, 401354KM, 401458RT, 401612HB
Known GenesRP2
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)esv3573924
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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