A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9783240



Internal ID18631328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29631089..29648536hg38UCSC Ensembl
Innerchr7:29670705..29688152hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3817448
hg1917448
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3571718
Supporting Variants
Samples400164SS
Known GenesLOC646762
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9783240
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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