A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9835699



Internal ID18317830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42576524..42885152hg38UCSC Ensembl
Innerchr1:43042195..43350823hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38308629
hg19308629
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577249
Supporting Variants
Samples401119DK
Known GenesC1orf50, CCDC23, CCDC30, CLDN19, ERMAP, LEPRE1, LOC100129924, LOC339539, PPIH, YBX1, ZNF691
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=344
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9835699
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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