A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575216



Internal ID18703414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169246861..169269552hg38UCSC Ensembl
Innerchr1:169216099..169238790hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3822692
hg1922692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114e212
Supporting Variantsessv9794822, essv9794656, essv9794811, essv9794900
Samples400626FC, 400893ZE, 400615RI, 400209BS
Known GenesNME7
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575216
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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