A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572092



Internal ID18700290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:116542756..116548341hg38UCSC Ensembl
Innerchr7:116182810..116188395hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg385586
hg195586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1953e212
Supporting Variantsessv9784754, essv9784729, essv9784716, essv9784724, essv9784737, essv9784710, essv9784703, essv9784698, essv9784749, essv9784734, essv9784746, essv9784707, essv9784758, essv9784704, essv9784687, essv9784725, essv9784727, essv9784693, essv9784688, essv9784697, essv9784732, essv9784735, essv9784718, essv9784747, essv9784714, essv9784757, essv9784741, essv9784745, essv9784739, essv9784695, essv9784702, essv9784706, essv9784730, essv9784690, essv9784751, essv9784750, essv9784723, essv9784699, essv9784753, essv9784717, essv9784691, essv9784731, essv9784736, essv9784726, essv9784692, essv9784719, essv9784748, essv9784713, essv9784715, essv9784705, essv9784752, essv9784694, essv9784686, essv9784742, essv9784712, essv9784709, essv9784721, essv9784708, essv9784701, essv9784740, essv9784696, essv9784738, essv9784728, essv9784720, essv9784743
Samples401474CE, 400247CL, 401806DL, 400599CP, 400618GC, 400987FB, 400802DP, 401592NR, 401235IA, 401117NA, 401927SK, 400449PK, 401151RJ, 401384BP, 401721CP, 400077EB, 400897MD, 400453LN, 400360SM, 401634CH, 400893ZE, 401064FR, 401975VD, 400827MM, 401924ST, 402028BD, 401869BG, 401006ES, 400134WK, 400526DR, 402012RR, 400579HJ, 400507VD, 401764JJ, 401873BK, 401437MJ, 400738WM, 401736BF, 401623SN, 401526WB, 400375KA, 401864CV, 401879HJ, 401630MK, 401262RR, 401017SC, 400006DK, 401067BD, 401039PA, 402074RR, 401259LS, 400030WD, 401677MM, 401334DH, 401391PJ, 400267GD, 400128MJ, 400996MC, 401372RR, 400106PC, 401781SL, 401354KM, 401177SL, 401932GN, 400782IE
Known GenesCAV1
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)esv3572092
Frequency
Sample Size873
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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