A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573367



Internal ID18701565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114652756..114668498hg38UCSC Ensembl
Innerchr9:117415036..117430778hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3815743
hg1915743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791614, essv9791609, essv9791612, essv9791613, essv9791610, essv9791608
Samples400908PJ, 400455SJ, 400625FT, 401857VG, 401278DM, 400721DJ
Known GenesLOC100505478
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)esv3573367
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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