A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9814444



Internal ID18313552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135458..46707273hg38UCSC Ensembl
Innerchr17:44212824..44784639hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38571816
hg19571816
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582719
Supporting Variants
Samples401010HT
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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=72
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9814444
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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