A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9768289



Internal ID18343901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68095289..68099527hg38UCSC Ensembl
Innerchr1:68560972..68565210hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384239
hg194239
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577910
Supporting Variants
Samples401894PD
Known GenesGNG12-AS1, WLS
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)essv9768289
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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