A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1216e212



Internal ID22784143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222796584..222810228hg38UCSC Ensembl
chr2:223661303..223674947hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3813645
hg1913645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584362, esv3584361
Samples400308SP, 401110GJ, 400439IM, 400622SJ, 400970VE, 401079HJ, 401302LJ, 401151RJ, 401195PN, 401556KR, 400486LS, 401906DT, 401975VD, 400627CC, 400022WA, 400320RN, 400348DK, 401495NR, 401855RE, 400478WE, 400333CC, 401746WW, 401801LA, 400270BD, 400198MD, 400060MC, 401192MJ, 401376RD, 400302HW, 401397WN, 401691HA, 402033WD, 401125LM, 400914ER, 400381CA, 401017SC, 400639RP, 401702GB, 401200BD, 401307VR, 400450FG, 401874DJ, 40050SB, 400329HJ, 400274TL, 400451kh, 400454RE, 400542EG, 400158FB, 400246MG, 401881TJ, 400971MK, 402008MC, 401143LK, 401809FU, 400811SK, 400271SR, 401543DC, 401829FJ, 401836SI, 401576WC, 400152MR, 400091BS, 400234CA, 401102RD
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)dgv1216e212
Frequency
Sample Size873
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer