A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572835



Internal ID18701033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74437852..74458026hg38UCSC Ensembl
Innerchr8:75350087..75370261hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3820175
hg1920175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2091e212
Supporting Variantsessv9789053, essv9789049, essv9789055, essv9789041, essv9789051, essv9789048, essv9789026, essv9789042, essv9789032, essv9789044, essv9789027, essv9789040, essv9789036, essv9789028, essv9789052, essv9789030, essv9789050, essv9789043, essv9789031, essv9789035, essv9789054, essv9789039, essv9789046, essv9789047, essv9789029, essv9789033, essv9789037, essv9789038
Samples400316SL, 400377WJ, 401592NR, 401845MJ, 401857VG, 401064FR, 400298ME, 401239PR, 401104DM, 400729HC, 400502GS, 400270BD, 400843FL, 400738WM, 401475MK, 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)esv3572835
Frequency
Sample Size873
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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