A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578248



Internal ID18706446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169246861..169272515hg38UCSC Ensembl
Innerchr1:169216099..169241753hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3825655
hg1925655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv112e212
Supporting Variantsessv9795477, essv9795410, essv9795455, essv9795399, essv9795422, essv9795466, essv9795488, essv9795444, essv9795499
Samples401962BK, 400453LN, 400729HC, 401764JJ, 401432SB, 400818BL, 401391PJ, 400084DM, 400238BB
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)esv3578248
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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