A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9836485



Internal ID18344924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196674745..197095661hg38UCSC Ensembl
Innerchr2:197539469..197960385hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38420917
hg19420917
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575323
Supporting Variants
Samples401924ST
Known GenesANKRD44, C2orf66, CCDC150, GTF3C3, LOC100130452, PGAP1
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=354
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9836485
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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