A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571491



Internal ID18353003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:159976102..159984407hg38UCSC Ensembl
Innerchr6:160397134..160405439hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg388306
hg198306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1844e212
Supporting Variantsessv9782432, essv9782431
Samples400230TB, 401661HD
Known GenesIGF2R
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)esv3571491
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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