A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584191



Internal ID18712389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178382986..178389549hg38UCSC Ensembl
Innerchr2:179247713..179254276hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386564
hg196564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835992, essv9835985, essv9835984, essv9835993, essv9835994, essv9835996, essv9835987, essv9835990, essv9835991, essv9835986, essv9835995, essv9835989
Samples400880TM, 401235IA, 401931JL, 400077EB, 401093VL, 400191MP, 401908YM, 400385LJ, 401764JJ, 401477ST, 400639RP, 402009WP
Known GenesMIR548N, OSBPL6
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)esv3584191
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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