A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571592



Internal ID18353104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6797362..6814467hg38UCSC Ensembl
Innerchr7:6836993..6854098hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3817106
hg1917106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1867e212
Supporting Variantsessv9782940, essv9782931, essv9782932, essv9782941, essv9782937, essv9782929, essv9782928, essv9782935, essv9782934, essv9782942, essv9782936, essv9782938, essv9782943, essv9782930, essv9782927, essv9782939, essv9782945
Samples400599CP, 401852SK, 400509CJ, 400307HW, 400817MB, 400442FE, 400302HW, 401274PA, 401950MD, 401563TK, 400249BC, 402051AF, 400586RD, 400312CR, 401912HD, 400704LC, 400269DA
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)esv3571592
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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