A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2110e212



Internal ID22785037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117857098..117863521hg38UCSC Ensembl
chr8:118869337..118875760hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg386424
hg196424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572955, esv3572956
Samples400594VJ, 401673DM, 400655WB, 401832MC, 401125LM, 400249BC, 400624RJ, 400722OM, 400704LC, 401180GR
Known GenesEXT1
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv2110e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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