A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573269



Internal ID18701467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76935501..76956901hg38UCSC Ensembl
Innerchr9:79550417..79571817hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3821401
hg1921401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2161e212
Supporting Variantsessv9791104, essv9791115, essv9791108, essv9791100, essv9791102, essv9791106, essv9791105, essv9791103, essv9791110, essv9791111, essv9791099, essv9791107, essv9791109, essv9791114, essv9791116, essv9791113
Samples401518VK, 400995MS, 400277LM, 401136LB, 400227MM, 401566DD, 401997HB, 401377MA, 400041LJ, 400383HL, 401357MH, 401348RB, 401475MK, 400450FG, 400732MA, 400243CK
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)esv3573269
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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