A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607084



Internal ID6647326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147015151..147017745hg38UCSC Ensembl
Innerchr5:147015152..147017744hg38UCSC Ensembl
Outerchr5:147015150..147017746hg38UCSC Ensembl
chr5:146394714..146397308hg19UCSC Ensembl
Innerchr5:146394715..146397307hg19UCSC Ensembl
Outerchr5:146394713..146397309hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382595
hg192595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12089742, essv12089928, essv12089885, essv12089814, essv12089834, essv12089899, essv12089782, essv12089749, essv12089862, essv12089753, essv12089854, essv12089922, essv12089852, essv12089796, essv12089772, essv12089730, essv12089744, essv12089874, essv12089879, essv12089775, essv12089801, essv12089732, essv12089743, essv12089838, essv12089813, essv12089745, essv12089803, essv12089770, essv12089855, essv12089867, essv12089877, essv12089898, essv12089824, essv12089740, essv12089893, essv12089923, essv12089764, essv12089904, essv12089756, essv12089846, essv12089913, essv12089805, essv12089808, essv12089869, essv12089785, essv12089768, essv12089765, essv12089843, essv12089842, essv12089861, essv12089798, essv12089797, essv12089739, essv12089816, essv12089841, essv12089790, essv12089821, essv12089884, essv12089784, essv12089931, essv12089791, essv12089802, essv12089849, essv12089917, essv12089909, essv12089826, essv12089773, essv12089868, essv12089901, essv12089807, essv12089758, essv12089926, essv12089930, essv12089754, essv12089907, essv12089786, essv12089793, essv12089825, essv12089830, essv12089734, essv12089883, essv12089737, essv12089853, essv12089844, essv12089769, essv12089866, essv12089881, essv12089809, essv12089857, essv12089864, essv12089870, essv12089748, essv12089781, essv12089751, essv12089925, essv12089755, essv12089783, essv12089851, essv12089757, essv12089818, essv12089804, essv12089848, essv12089887, essv12089833, essv12089860, essv12089924, essv12089927, essv12089736, essv12089839, essv12089850, essv12089900, essv12089752, essv12089847, essv12089828, essv12089889, essv12089908, essv12089759, essv12089872, essv12089835, essv12089823, essv12089735, essv12089897, essv12089774, essv12089859, essv12089845, essv12089817, essv12089918, essv12089831, essv12089779, essv12089896, essv12089731, essv12089800, essv12089747, essv12089873, essv12089771, essv12089788, essv12089733, essv12089910, essv12089919, essv12089792, essv12089761, essv12089776, essv12089915, essv12089827, essv12089778, essv12089789, essv12089794, essv12089920, essv12089829, essv12089750, essv12089767, essv12089780, essv12089882, essv12089766, essv12089810, essv12089836, essv12089760, essv12089876, essv12089888, essv12089902, essv12089916, essv12089815, essv12089763, essv12089891, essv12089741, essv12089914, essv12089912, essv12089819, essv12089837, essv12089806, essv12089787, essv12089822, essv12089863, essv12089795, essv12089865, essv12089890, essv12089895, essv12089832, essv12089894, essv12089906, essv12089929, essv12089738, essv12089875, essv12089856, essv12089871, essv12089921, essv12089811, essv12089892, essv12089799, essv12089886, essv12089840, essv12089905, essv12089762, essv12089746, essv12089812, essv12089903, essv12089820, essv12089911, essv12089880, essv12089777, essv12089858, essv12089878
SamplesNA18642, HG00613, HG01441, NA19012, NA18647, HG00881, HG01926, HG02250, NA18605, HG00607, HG02793, NA18595, HG02138, HG02398, HG01250, HG02116, NA19081, HG00978, HG04159, HG00437, HG01342, HG01859, NA18612, HG00675, NA18757, HG01970, HG00457, NA19072, NA18639, NA20299, NA18603, NA18993, HG00614, HG02048, NA18591, HG04026, HG01816, NA18953, HG00475, NA18947, NA19010, NA18573, NA18608, HG01350, HG02379, NA18541, HG01131, HG02020, NA18546, HG02156, HG01571, NA18965, HG01860, HG01841, HG01950, HG01840, NA18596, NA18632, HG00592, HG01597, HG00543, HG02081, NA18559, NA19062, NA18998, NA18967, NA19054, NA18627, NA19735, HG01796, HG03021, HG00240, NA19068, NA18622, NA18960, NA18618, HG02142, NA19011, HG01583, NA18617, NA18641, HG00728, HG01866, HG01088, NA18991, HG03884, HG00689, HG01965, NA18531, NA18592, NA19083, HG01815, NA19066, NA18959, HG00419, NA18547, HG02356, NA18593, HG02380, NA19056, NA19086, HG01596, NA18970, NA18539, NA19000, HG02392, HG03869, HG00844, HG03786, NA19080, NA18640, HG02019, HG02382, NA18633, HG00653, NA18572, NA18954, HG00766, HG01806, NA19005, HG02073, HG00560, HG03934, HG02017, HG00273, NA18748, NA18942, HG01257, HG02087, NA18613, NA18988, HG00534, HG02265, HG02364, HG02072, NA19091, HG00729, NA18974, HG02180, HG02299, NA18945, HG01921, HG02026, HG00445, HG00595, NA18552, NA19729, HG01326, NA18599, NA19723, NA19078, HG00717, HG01801, HG01939, NA18538, NA18740, NA19009, HG02075, NA18560, HG00409, NA18971, HG00654, HG02079, HG02141, HG02252, HG01802, NA18946, NA19064, NA18944, NA19063, NA18571, NA19732, HG00422, HG03857, NA19006, HG02409, HG03640, HG00693, HG00566, HG03814, HG01842, HG03802, NA18532, NA18549, NA18574, HG00473, NA19079, HG02391, HG02188, NA19758, HG00622, NA19087, HG01869, HG02064, NA18555, HG03991, HG02396, NA19065, NA19058, NA18980, HG03937, NA18962
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607084
Frequency
Sample Size2504
Observed Gain0
Observed Loss202
Observed Complex0
Frequencyn/a


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