A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579956



Internal ID18361468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128461671..128464858hg38UCSC Ensembl
Innerchr11:128331566..128334753hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg383188
hg193188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9799101, essv9799097, essv9799099, essv9799102, essv9799098
Samples400063BR, 402028BD, 400073HT, 400040CN, 400235MP
Known GenesETS1
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)esv3579956
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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