A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9835755



Internal ID18289620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44707787..44712838hg38UCSC Ensembl
Innerchr1:45173459..45178510hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385052
hg195052
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577830
Supporting Variants
Samples400294HD
Known GenesC1orf228
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)essv9835755
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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