A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2091e212



Internal ID22785018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74437852..74458339hg38UCSC Ensembl
chr8:75350087..75370574hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3820488
hg1920488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572835, esv3572836
Samples400316SL, 400377WJ, 401592NR, 401845MJ, 401857VG, 401064FR, 400298ME, 401239PR, 400148MS, 401104DM, 400729HC, 400502GS, 400270BD, 400843FL, 400738WM, 401475MK, 401326LI, 400800MW, 400211BJ, 400837HN, 401016IT, 400769SL, 400328LM, 401861GG, 401056TJ, 401372RR, 400084DM, 400833BB, 402042BJ, 400291VJ
Known Genes
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)dgv2091e212
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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