A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573191



Internal ID18701389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27984627..27992873hg38UCSC Ensembl
Innerchr9:27984625..27992871hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg388247
hg198247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9790641, essv9790648, essv9790643, essv9790653, essv9790646, essv9790651, essv9790639, essv9790650, essv9790652, essv9790640, essv9790647, essv9790649, essv9790654, essv9790638, essv9790642
Samples401820SD, 400241CP, 400675HC, 402038MR, 401155ML, 400717BD, 400411TG, 401691HA, 401423BA, 400543CK, 400361HC, 401881TJ, 400271SR, 400013TA, 400494ML
Known GenesLINGO2
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)esv3573191
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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