A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572885



Internal ID18701083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86117505..86124091hg38UCSC Ensembl
Innerchr8:87129734..87136320hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386587
hg196587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9789328, essv9789327, essv9789324, essv9789329, essv9789326, essv9789321, essv9789322, essv9789325
Samples400987FB, 401198TI, 402029KJ, 401437MJ, 401499JR, 400758KP, 400410CD, 401861GG
Known GenesATP6V0D2
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)esv3572885
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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