A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573229



Internal ID18701427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37996880..37999542hg38UCSC Ensembl
Innerchr9:37996877..37999539hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg382663
hg192663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2150e212
Supporting Variantsessv9790851, essv9790848, essv9790846, essv9790856, essv9790845, essv9790847, essv9790854, essv9790850, essv9790853, essv9790852, essv9790849
Samples400569WC, 400889CM, 401302LJ, 400641WJ, 400341GL, 400763BT, 400577MK, 400381CA, 401825TH, 401618HR, 400246MG
Known GenesSHB
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)esv3573229
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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