A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579331



Internal ID18707529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:7440993..7443586hg38UCSC Ensembl
Innerchr11:7462224..7464817hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382594
hg192594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9796021, essv9796024, essv9796026, essv9796028, essv9796023, essv9796025, essv9796027
Samples401460LW, 401931JL, 401426WD, 402028BD, 400533BB, 402060PD, 401969DR
Known GenesLOC100506258, SYT9
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)esv3579331
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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