A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9789901



Internal ID18305069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129860292..130116656hg38UCSC Ensembl
Innerchr8:130872538..131128902hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38256365
hg19256365
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576608
Supporting Variants
Samples400733SW
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
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=202
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9789901
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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