A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573863



Internal ID18702061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:37825899..37827750hg38UCSC Ensembl
InnerchrX:37685152..37687003hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381852
hg191852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2276e212
Supporting Variantsessv9825441, essv9825432, essv9825429, essv9825434, essv9825440, essv9825435, essv9825438, essv9825428, essv9825446, essv9825430, essv9825425, essv9825437, essv9825447, essv9825445, essv9825431, essv9825448, essv9825442, essv9825443, essv9825426, essv9825427, essv9825436, essv9825423, essv9825424, essv9825439
Samples400316SL, 400655WB, 401845MJ, 400425SL, 401975VD, 401281BP, 400606HW, 401746WW, 400113LD, 401448BJ, 400983PV, 401397WN, 401879HJ, 401730MS, 401942MP, 400639RP, 401889FR, 401496SL, 401016IT, 400586RD, 401215MJ, 400108BJ, 401453OL, 400091BS
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)esv3573863
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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