A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1508e212



Internal ID20149964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86054928..86058923hg38UCSC Ensembl
chr4:86976081..86980076hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383996
hg193996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569561, esv3569563, esv3569560, esv3569557, esv3569558, esv3569562, esv3569566, esv3569559
Samples400424LN, 400618GC, 401074CM, 401911FL, 401299ST, 400083TG, 401183HP, 400506GN, 401427CB, 401151RJ, 401856GC, 401582GG, 400658BW, 400528LR, 400882DD, 400032RC, 400206SC, 401393JW, 400270BD, 401013GJ, 400829MR, 400265LK, 400047DS, 400639RP, 400248JO, 402074RR, 400319HT, 400474GF, 400177CG, 400444MM, 401334DH, 401391PJ, 400103BN, 401287CF, 400863SS, 401438HT, 400205SP, 401543DC, 400130HA, 400013TA, 400266BA, 401932GN, 400150SS, 402024BB, 400890IT, 400243CK, 400782IE, 401497PR
Known GenesMAPK10
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)dgv1508e212
Frequency
Sample Size873
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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