A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9798280



Internal ID18662154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61200265..61248321hg38UCSC Ensembl
Innerchr11:60967737..61015793hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3848057
hg1948057
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579734
Supporting Variants
Samples401054VM
Known GenesPGA3, PGA4, PGA5
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9798280
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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