A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578798



Internal ID18360310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46216095..46317441hg38UCSC Ensembl
Innerchr10:47587331..47688677hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38101347
hg19101347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv229e212
Supporting Variantsessv9793374, essv9793373, essv9793372, essv9793375
Samples401021SC, 400325BE, 400836LK, 401026AM
Known GenesANTXRL, ANTXRLP1
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)esv3578798
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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