A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571601



Internal ID18353113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6774457..6814451hg38UCSC Ensembl
Innerchr7:6814088..6854082hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3839995
hg1939995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1864e212
Supporting Variantsessv9782899, essv9782895, essv9782897, essv9782896, essv9782894, essv9782898
Samples400203NA, 400127MD, 401165SB, 401039PA, 401552BK, 400645KM
Known GenesCCZ1B, RSPH10B, RSPH10B2
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)esv3571601
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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