A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9795455



Internal ID18654242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169246861..169272515hg38UCSC Ensembl
Innerchr1:169216099..169241753hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3825655
hg1925655
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578248
Supporting Variants
Samples400818BL
Known GenesNME7
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=14
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9795455
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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