A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629408



Internal ID7016230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46896687..46915973hg38UCSC Ensembl
Innerchr12:46896742..46915918hg38UCSC Ensembl
Outerchr12:46896632..46916028hg38UCSC Ensembl
chr12:47290470..47309756hg19UCSC Ensembl
Innerchr12:47290525..47309701hg19UCSC Ensembl
Outerchr12:47290415..47309811hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3819287
hg1919287
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474592, essv14474715, essv14474761, essv14474810, essv14474626, essv14474696, essv14474596, essv14474621, essv14474783, essv14474623, essv14474607, essv14474733, essv14474602, essv14474591, essv14474709, essv14474734, essv14474684, essv14474749, essv14474815, essv14474800, essv14474794, essv14474708, essv14474610, essv14474674, essv14474622, essv14474670, essv14474658, essv14474675, essv14474641, essv14474605, essv14474758, essv14474692, essv14474752, essv14474667, essv14474814, essv14474642, essv14474785, essv14474668, essv14474763, essv14474615, essv14474600, essv14474663, essv14474813, essv14474700, essv14474650, essv14474728, essv14474681, essv14474613, essv14474743, essv14474625, essv14474799, essv14474716, essv14474680, essv14474714, essv14474776, essv14474706, essv14474703, essv14474816, essv14474653, essv14474645, essv14474797, essv14474748, essv14474760, essv14474784, essv14474739, essv14474719, essv14474619, essv14474736, essv14474742, essv14474720, essv14474704, essv14474651, essv14474766, essv14474737, essv14474812, essv14474617, essv14474693, essv14474688, essv14474660, essv14474627, essv14474677, essv14474713, essv14474765, essv14474690, essv14474603, essv14474686, essv14474614, essv14474805, essv14474685, essv14474731, essv14474672, essv14474811, essv14474590, essv14474669, essv14474778, essv14474755, essv14474796, essv14474638, essv14474793, essv14474631, essv14474727, essv14474695, essv14474636, essv14474652, essv14474632, essv14474792, essv14474817, essv14474659, essv14474702, essv14474606, essv14474772, essv14474644, essv14474724, essv14474787, essv14474699, essv14474649, essv14474676, essv14474656, essv14474721, essv14474705, essv14474729, essv14474769, essv14474753, essv14474744, essv14474694, essv14474741, essv14474768, essv14474643, essv14474767, essv14474662, essv14474673, essv14474759, essv14474630, essv14474601, essv14474789, essv14474598, essv14474609, essv14474593, essv14474788, essv14474746, essv14474762, essv14474804, essv14474691, essv14474808, essv14474807, essv14474750, essv14474629, essv14474717, essv14474786, essv14474740, essv14474620, essv14474634, essv14474738, essv14474725, essv14474707, essv14474682, essv14474671, essv14474770, essv14474730, essv14474710, essv14474782, essv14474678, essv14474599, essv14474624, essv14474775, essv14474754, essv14474683, essv14474646, essv14474803, essv14474701, essv14474718, essv14474780, essv14474774, essv14474818, essv14474679, essv14474819, essv14474664, essv14474712, essv14474771, essv14474648, essv14474751, essv14474654, essv14474698, essv14474639, essv14474781, essv14474756, essv14474735, essv14474757, essv14474745, essv14474795, essv14474640, essv14474635, essv14474779, essv14474633, essv14474821, essv14474697, essv14474791, essv14474732, essv14474820, essv14474747, essv14474665, essv14474661, essv14474628, essv14474655, essv14474608, essv14474777, essv14474618, essv14474616, essv14474802, essv14474689, essv14474723, essv14474612, essv14474798, essv14474604, essv14474687, essv14474726, essv14474790, essv14474611, essv14474597, essv14474809, essv14474666, essv14474637, essv14474594, essv14474595, essv14474722, essv14474657, essv14474711, essv14474773, essv14474764, essv14474647, essv14474806, essv14474801
SamplesHG02658, HG00304, HG04096, HG03228, NA10851, NA20783, HG04158, NA20878, NA21100, HG01326, HG02727, HG00315, HG00151, NA20512, NA20864, HG02688, NA21128, HG01051, HG03679, HG04156, HG04059, HG03782, HG03645, HG03770, HG04038, NA20798, NA20589, HG03808, HG01277, HG03673, HG01063, HG01365, HG00243, HG03887, HG04183, NA20518, HG02736, HG00325, NA20889, HG04047, HG01198, NA20342, HG00323, HG01967, NA20515, HG01565, HG00349, HG00137, NA12760, HG00268, HG01171, HG00380, HG02793, HG02345, NA21119, HG03990, HG02057, HG00732, HG04195, NA20810, HG00368, NA19663, NA12718, NA20519, HG01675, HG04177, HG00284, NA20867, NA21124, NA20581, NA21112, NA11840, HG02657, HG02141, HG03643, HG01101, HG03971, HG02783, HG03969, HG03672, HG03006, HG03752, HG04159, HG03898, HG02219, HG03720, HG00258, NA20872, NA20851, HG00383, HG04216, HG00336, HG02010, HG01131, HG04186, NA12272, HG01174, NA20790, NA20530, NA20362, HG03702, NA20888, HG01785, HG01086, NA20906, NA20897, HG01765, NA20847, NA20852, NA21093, NA20289, HG01631, HG02774, NA20503, NA12006, HG03867, HG03985, HG01786, NA20754, HG03989, HG03864, HG01516, HG03812, HG01746, NA21110, HG02652, NA20853, HG01054, NA20543, HG03652, NA21089, NA11995, HG03767, NA21092, NA12045, HG04002, NA20805, NA21115, HG04164, NA20808, HG00341, HG03944, HG04001, HG03950, HG01571, HG03796, NA20861, NA20850, HG03490, HG02687, NA20905, HG01945, NA11992, NA21103, HG01668, HG03762, HG03830, NA12761, HG00277, NA12005, HG03826, HG00379, HG00236, NA20896, HG01495, HG01281, HG04106, HG01767, HG03696, HG03777, NA12889, HG03995, NA19725, HG03884, NA21122, NA20818, HG02737, HG03007, NA12342, HG01271, HG04019, HG03756, HG02102, HG03021, HG03742, NA20299, HG02604, NA20538, HG04155, HG03974, HG01791, HG03854, NA06985, HG00141, HG03755, HG03991, HG03774, NA21142, HG01589, HG03940, NA21143, NA20821, NA20522, HG02684, HG03790, HG01190, HG02696, NA20804, HG02651, NA19786, NA20797, NA21126, HG04003, HG01606, NA20348, NA20868, HG03646, HG00329, HG02699, NA21101, HG04209, HG01089, HG00131, HG01781, HG03882, HG01775, HG00345, NA21104, HG01112, HG01097, HG00554, HG01976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629408
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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