A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv803e212



Internal ID22783730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19931704..19954608hg38UCSC Ensembl
chr16:19943026..19965930hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3822905
hg1922905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582075, esv3582083, esv3582077, esv3582080, esv3582081
Samples400920MK, 401806DL, 400308SP, 401110GJ, 401489CB, 401146US, 400821FE, 400336BG, 400101EH, 400626FC, 400683EC, 401117NA, 400866RR, 401302LJ, 401442WR, 401845MJ, 400625FT, 400325BE, 401096SL, 401824MM, 401468RL, 400059SV, 400934LA, 400643LD, 400493KH, 401582GG, 401308LD, 401936BA, 401551MB, 400528LR, 401281BP, 400718PS, 401297KC, 401860TJ, 400482MD, 401695BT, 401687LR, 400588BE, 400337HG, 401214BJ, 400033KC, 400564SN, 401773AM, 400579HJ, 401801LA, 401791FG, 401175FA, 400974PS, 400533BB, 400040CN, 401623SN, 401119DK, 400758KP, 401825TH, 401879HJ, 401630MK, 401506LK, 401942MP, 401619BT, 401311GL, 401017SC, 401892MJ, 400888MS, 401087SF, 400603CJ, 400362TV, 401011PJ, 400422PN, 401778CB, 401884WJ, 401696CG, 401700BN, 401514BA, 401182OC, 400943DV, 401616WP, 400624RJ, 401428LD, 400158FB, 401844ZD, 401295HB, 400295PS, 400501SJ, 4000046CJ, 401152MV, 402008MC, 400106PC, 401912HD, 401354KM, 400130HA, 401154BR, 400108BJ, 402023EC, 401177SL, 400291VJ, 400150SS, 400164SS, 401510DG, 400021ME, 400255CD, 401395OP, 400668TD
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)dgv803e212
Frequency
Sample Size873
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


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