A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579246



Internal ID18707444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3377199..3385079hg38UCSC Ensembl
Innerchr11:3398429..3406309hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387881
hg197881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9795352, essv9795338, essv9795354, essv9795345, essv9795343, essv9795350, essv9795346, essv9795341, essv9795353, essv9795336, essv9795337, essv9795339, essv9795351, essv9795348, essv9795347, essv9795340, essv9795342, essv9795349
Samples400468OB, 401783BD, 400241CP, 401019MP, 400155CW, 402062KR, 401780BB, 400231LP, 400353ML, 400341GL, 401791FG, 400411TG, 401813DN, 402051AF, 400769SL, 400205SP, 402073LQ, 400173KP
Known GenesLOC650368, ZNF195
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)esv3579246
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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