A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9808710



Internal ID18631877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240652920..240663696hg38UCSC Ensembl
Innerchr1:240816220..240826996hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810777
hg1910777
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578507
Supporting Variants
Samples400186WC
Known Genes
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9808710
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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