A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv987e212



Internal ID22783914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50606875..50614535hg38UCSC Ensembl
chr18:48133245..48140905hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387661
hg197661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583059, esv3583061, esv3583058
Samples401799DP, 401474CE, 400987FB, 401005BL, 400268SY, 400132HN, 400094RS, 401077VC, 401487FW, 400906BR, 401911FL, 400506GN, 400595CP, 401931JL, 400629BM, 400325BE, 400425SL, 401253MC, 400360SM, 400588BE, 401239PR, 401908YM, 401214BJ, 400121PL, 401831TW, 400333CC, 401997HB, 400582WS, 400411TG, 400974PS, 400738WM, 402052ZA, 400768MN, 401494PD, 400082SD, 401478RD, 401444LD, 402022SM, 401892MJ, 401587RC, 400258BC, 400520FM, 400135DR, 400788PV, 401677MM, 401057SS, 400837HN, 401287CF, 400267GD, 401438HT, 400328LM, 401240ML, 400271SR, 400013TA, 401153HS, 401932GN, 400540BM, 401480PG, 400152MR, 400234CA
Known GenesMAPK4
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)dgv987e212
Frequency
Sample Size873
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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