A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9810500



Internal ID18314463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28799004..29032129hg38UCSC Ensembl
Innerchr16:28810325..29043450hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38233126
hg19233126
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570454
Supporting Variants
Samples401027KW
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
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=141
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9810500
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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