A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571571



Internal ID18699769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3562716..3584419hg38UCSC Ensembl
Innerchr7:3602348..3624051hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3821704
hg1921704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9782869, essv9782864, essv9782870, essv9782861, essv9782863, essv9782865, essv9782860, essv9782868, essv9782862
Samples400204SC, 401285HN, 401931JL, 401939GD, 400207HN, 400660GK, 401259LS, 401844ZD, 401105WS
Known GenesSDK1
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)esv3571571
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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