A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9791987



Internal ID18304694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4909566..5001136hg38UCSC Ensembl
Innerchr10:4951758..5043328hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3891571
hg1991571
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578596
Supporting Variants
Samples400728PB
Known GenesAKR1C1, AKR1C2, AKR1C6P
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
CommentsNumber of probes=104
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9791987
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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