A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv989e212



Internal ID19008197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:53379661..53386630hg38UCSC Ensembl
chr18:50906031..50913000hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg386970
hg196970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583074, esv3583073, esv3583076, esv3583075
Samples400683EC, 400375KA, 401739BJ, 400846MC, 401230NL, 400688FL, 400075MR, 400381CA, 400454RE, 401517PR, 400110MD, 401075MN, 400271SR, 400788PV, 400507VD, 401016IT, 400663MD, 400278PD, 400508RD, 401792KR, 401652HL, 401931JL, 400267GD, 401203MP, 401506LK, 401898DS, 401799DP, 400619MP, 401100SJ, 400145BL, 400994HJ, 400033KC, 400270BD, 400876OG, 401730MS, 401496SL, 401066MM, 401085LA, 400542EG, 400869BK, 401847RK, 401939GD, 401372RR, 400073HT, 401415CB, 400626FC, 400624RJ, 401006ES, 400920MK, 401852SK, 401857VG, 400245SJ, 400827MM
Known GenesDCC
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)dgv989e212
Frequency
Sample Size873
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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