A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573313



Internal ID18701511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:100981386..100999566hg38UCSC Ensembl
Innerchr9:103743668..103761848hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3818181
hg1918181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2172e212
Supporting Variantsessv9791343, essv9791346, essv9791342, essv9791341, essv9791344, essv9791347
Samples400132HN, 400737GC, 400083TG, 401726LW, 400236DB, 401912HD
Known Genes
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)esv3573313
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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