A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576653



Internal ID18358165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69125278..69128061hg38UCSC Ensembl
Innerchr9:71740194..71742977hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg382784
hg192784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2153e212
Supporting Variantsessv9790909, essv9790913, essv9790908, essv9790899, essv9790904, essv9790898, essv9790914, essv9790907, essv9790910, essv9790902, essv9790905, essv9790901, essv9790906, essv9790903
Samples401592NR, 401742KB, 401857VG, 400827MM, 400218WK, 401977ES, 401691HA, 402033WD, 401414CR, 400158FB, 400525MR, 400261RN, 401882CR, 401612HB
Known GenesTJP2
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)esv3576653
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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