A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572483



Internal ID18700681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6969466..7001871hg38UCSC Ensembl
Innerchr8:6826988..6859393hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3832406
hg1932406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2033e212
Supporting Variantsessv9786952, essv9786949, essv9786951, essv9786950
Samples402067KS, 401698SB, 400507VD, 401817MC
Known GenesDEFA1, DEFA1B, DEFT1P, DEFT1P2
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)esv3572483
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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