A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579944



Internal ID18361456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205392..125218418hg38UCSC Ensembl
Innerchr11:125075288..125088314hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813027
hg1913027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv421e212
Supporting Variantsessv9799075, essv9799080, essv9799081, essv9799072, essv9799069, essv9799068, essv9799071, essv9799076, essv9799073, essv9799074, essv9799079, essv9799078, essv9799070
Samples401036WS, 400073HT, 400353ML, 401495NR, 401376RD, 400040CN, 401526WB, 400829MR, 401630MK, 401700BN, 401054VM, 400792RE, 401607LL
Known GenesPKNOX2
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)esv3579944
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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