A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9767100



Internal ID18326303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57253755..57419341hg38UCSC Ensembl
Innerchr3:57287783..57405068hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38165587
hg19117286
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575575
Supporting Variants
Samples401377MA
Known GenesAPPL1, ASB14, DNAH12
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=116
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9767100
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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