A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571992



Internal ID18700190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:94630196..94635805hg38UCSC Ensembl
Innerchr7:94259508..94265117hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385610
hg195610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784411, essv9784403, essv9784402, essv9784416, essv9784412, essv9784414, essv9784415, essv9784408, essv9784405, essv9784404, essv9784407, essv9784419, essv9784406, essv9784417, essv9784409, essv9784413, essv9784418
Samples401474CE, 400439IM, 400572PJ, 400889CM, 401972BA, 401415CB, 401064FR, 400427SD, 400338SR, 401655DC, 401862AN, 401618HR, 401919MD, 400518MS, 400654YW, 400168HC, 400091BS
Known GenesSGCE
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)esv3571992
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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