A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9787055



Internal ID18667721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148933915..149019398hg38UCSC Ensembl
Innerchr1:144865073..144950574hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3885484
hg1985502
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569897
Supporting Variants
Samples401230NL
Known GenesLOC100288142, NBPF9, PDE4DIP
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=144
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9787055
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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