A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572792



Internal ID18700990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61549222..61552454hg38UCSC Ensembl
Innerchr8:62461781..62465013hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383233
hg193233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9788785, essv9788790, essv9788784, essv9788786, essv9788789, essv9788787, essv9788783
Samples400737GC, 400620MT, 400558BL, 400245SJ, 400836LK, 400156WT, 401025SM
Known GenesASPH
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)esv3572792
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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