A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9812406



Internal ID18650914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7255166..7269312hg38UCSC Ensembl
Innerchr17:7158485..7172631hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3814147
hg1914147
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582509
Supporting Variants
Samples400712GC
Known GenesCLDN7, ELP5
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=9
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9812406
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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