A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3571592

Internal ID18353104
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6797362..6814467hg38UCSC Ensembl
Innerchr7:6836993..6854098hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1867e212
Supporting Variantsessv9782943, essv9782932, essv9782940, essv9782930, essv9782937, essv9782927, essv9782928, essv9782939, essv9782935, essv9782941, essv9782936, essv9782942, essv9782931, essv9782929, essv9782934, essv9782945, essv9782938
Samples400312CR, 401912HD, 400269DA, 400599CP, 402051AF, 401950MD, 400302HW, 400249BC, 401563TK, 400307HW, 400704LC, 400586RD, 400442FE, 400817MB, 401852SK, 400509CJ, 401274PA
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
Pubmed ID25503493
Accession Number(s)esv3571592
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0

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