A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574136



Internal ID18702334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:85544831..85561949hg38UCSC Ensembl
InnerchrX:84799836..84816954hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg3817119
hg1917119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2325e212
Supporting Variantsessv9826774, essv9826739, essv9826801, essv9826720, essv9826773, essv9826718, essv9826804, essv9826757, essv9826734, essv9826797, essv9826810, essv9826809, essv9826827, essv9826793, essv9826761, essv9826816, essv9826735, essv9826805, essv9826749, essv9826770, essv9826826, essv9826798, essv9826724, essv9826792, essv9826750, essv9826743, essv9826738, essv9826753, essv9826771, essv9826736, essv9826779, essv9826763, essv9826751, essv9826769, essv9826731, essv9826729, essv9826728, essv9826821, essv9826776, essv9826719, essv9826746, essv9826737, essv9826775, essv9826760, essv9826828, essv9826824, essv9826806, essv9826742, essv9826784, essv9826814, essv9826825, essv9826745, essv9826782, essv9826796, essv9826730, essv9826819, essv9826790, essv9826721, essv9826803, essv9826747, essv9826802, essv9826759, essv9826727, essv9826726, essv9826781, essv9826777, essv9826786, essv9826785, essv9826772, essv9826754, essv9826807, essv9826787, essv9826794, essv9826758, essv9826791, essv9826808, essv9826762, essv9826732, essv9826799, essv9826752, essv9826723, essv9826823, essv9826788, essv9826764, essv9826813, essv9826780, essv9826820, essv9826812, essv9826817, essv9826766, essv9826783, essv9826740, essv9826717, essv9826725, essv9826765, essv9826815, essv9826829, essv9826818, essv9826741, essv9826748, essv9826795, essv9826768
Samples400359OR, 400424LN, 401292ER, 400926LJ, 401852SK, 400739SS, 401052BM, 401146US, 401819BS, 400313DF, 400468OB, 400683EC, 400429YF, 401742KB, 401117NA, 400995MS, 400141CC, 401093VL, 401820SD, 401434VN, 400641WJ, 400059SV, 400509CJ, 401030GI, 401582GG, 400620MT, 400953MR, 400558BL, 400379BB, 401258PC, 400606HW, 400675HC, 400227MM, 400343BD, 400460DM, 401538NS, 401965TG, 401104DM, 400385LJ, 402061PI, 400729HC, 401029SD, 400113LD, 400186WC, 400060MC, 400843FL, 401785MJ, 400974PS, 401900RJ, 401274PA, 400791GC, 401863BD, 400977SC, 400768MN, 400240HJ, 401594MP, 400375KA, 401968HL, 400076LC, 401630MK, 4000657TM, 400800MW, 401311GL, 400547BS, 402022SM, 401017SC, 401812HG, 400886MP, 401981GF, 400978JG, 400014SL, 402074RR, 401587RC, 400598DA, 400354TJ, 401259LS, 400474GF, 400030WD, 401677MM, 400943DV, 400818BL, 400837HN, 400728PB, 401595BL, 400542EG, 400458LS, 400103BN, 400712GC, 400267GD, 400328LM, 4000046CJ, 401240ML, 400323AA, 400879DS, 401628GC, 400150SS, 400079AP, 401053MF, 400209BS, 401993HM, 400138LA, 400494ML
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)esv3574136
Frequency
Sample Size873
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


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