A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9782817



Internal ID18346421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:981839..1000115hg38UCSC Ensembl
Innerchr7:1021475..1039751hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3818277
hg1918277
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3571559
Supporting Variants
Samples401966SR
Known GenesC7orf50, CYP2W1
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
CommentsNumber of probes=14
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9782817
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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