A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9814833



Internal ID18627922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13898294..14597941hg38UCSC Ensembl
Innerchr2:14038419..14738065hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38699648
hg19699647
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583648
Supporting Variants
Samples400077EB
Known GenesLINC00276
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=475
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9814833
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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