A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571432



Internal ID18699630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:143109016..143114866hg38UCSC Ensembl
Innerchr6:143430153..143436003hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385851
hg195851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9782054, essv9782057, essv9782053, essv9782058, essv9782056
Samples400987FB, 401285HN, 400553PP, 400785AK, 400532MH
Known GenesAIG1
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)esv3571432
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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