A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575227



Internal ID18703425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169246861..169285626hg38UCSC Ensembl
Innerchr1:169216099..169254864hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3838766
hg1938766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e212
Supporting Variantsessv9795545, essv9795556, essv9795521, essv9795622, essv9795578, essv9795589, essv9795567, essv9795600, essv9795611, essv9795510
Samples400926LJ, 401852SK, 401321CE, 400650RM, 400207HN, 400082SD, 400886MP, 400571WV, 400103BN, 400863SS
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)esv3575227
Frequency
Sample Size873
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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