A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572091



Internal ID18700289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:116489571..116505001hg38UCSC Ensembl
Innerchr7:116129625..116145055hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3815431
hg1915431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784684, essv9784683
Samples400967PK, 401628GC
Known GenesCAV2
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)esv3572091
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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