A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570139



Internal ID18698337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52285479..52298976hg38UCSC Ensembl
Innerchr5:51581313..51594810hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3813498
hg1913498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1605e212
Supporting Variantsessv9774709, essv9774758, essv9774750, essv9774764, essv9774706, essv9774726, essv9774718, essv9774735, essv9774719, essv9774734, essv9774729, essv9774732, essv9774743, essv9774730, essv9774765, essv9774742, essv9774770, essv9774740, essv9774738, essv9774757, essv9774763, essv9774708, essv9774754, essv9774745, essv9774773, essv9774753, essv9774731, essv9774762, essv9774749, essv9774710, essv9774713, essv9774703, essv9774766, essv9774772, essv9774761, essv9774705, essv9774725, essv9774728, essv9774739, essv9774715, essv9774702, essv9774724, essv9774748, essv9774760, essv9774751, essv9774714, essv9774741, essv9774769, essv9774717, essv9774723, essv9774727, essv9774746, essv9774737, essv9774704, essv9774752, essv9774712, essv9774701, essv9774768, essv9774759, essv9774720, essv9774707, essv9774771, essv9774736, essv9774721, essv9774716, essv9774747
Samples401474CE, 400075MR, 400927BD, 400599CP, 400701MM, 400424LN, 400984LD, 401221LD, 400987FB, 400569WC, 401052BM, 401956DQ, 400230TB, 401403TD, 400949AM, 400595CP, 400834SS, 400897MD, 401468RL, 401556KR, 400493KH, 400241CP, 401019MP, 400627CC, 401297KC, 401263HS, 401687LR, 400773GS, 402038MR, 400650RM, 401038LN, 401133JG, 401609MB, 400838AM, 400660GK, 400381CA, 401968HL, 400043HC, 401563TK, 401813DN, 402054BD, 400888MS, 401087SF, 400211BJ, 400721DJ, 400378HL, 400795CL, 400818BL, 400654YW, 401203MP, 400158FB, 400881GS, 400376SJ, 400759FV, 401054VM, 401567BD, 401215MJ, 401728WK, 400108BJ, 401040KM, 401628GC, 401517PR, 400942HR, 400668TD, 401207DA, 400269DA
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)esv3570139
Frequency
Sample Size873
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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