A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623768



Internal ID6663935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70688979..70691587hg38UCSC Ensembl
Innerchr10:70688979..70691587hg38UCSC Ensembl
Outerchr10:70688762..70691805hg38UCSC Ensembl
chr10:72448735..72451343hg19UCSC Ensembl
Innerchr10:72448735..72451343hg19UCSC Ensembl
Outerchr10:72448518..72451561hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382609
hg192609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13858988, essv13858777, essv13858807, essv13859098, essv13858883, essv13858726, essv13858901, essv13859118, essv13859127, essv13859036, essv13858909, essv13858946, essv13858937, essv13859008, essv13859011, essv13859142, essv13859001, essv13858686, essv13858750, essv13858679, essv13858651, essv13858778, essv13859077, essv13858939, essv13859031, essv13859054, essv13859139, essv13859041, essv13858761, essv13858974, essv13859115, essv13858866, essv13858911, essv13859034, essv13859012, essv13859068, essv13859096, essv13859063, essv13858769, essv13858824, essv13858849, essv13859023, essv13859122, essv13859116, essv13859140, essv13858838, essv13859120, essv13858752, essv13858976, essv13858727, essv13858873, essv13859059, essv13859042, essv13858683, essv13858743, essv13859083, essv13859117, essv13858956, essv13858755, essv13858666, essv13858938, essv13859089, essv13859048, essv13859030, essv13859084, essv13859058, essv13859130, essv13858766, essv13859020, essv13858717, essv13859129, essv13858789, essv13859035, essv13858714, essv13858809, essv13858815, essv13859090, essv13858684, essv13858884, essv13858827, essv13858846, essv13859080, essv13858998, essv13858973, essv13858979, essv13859156, essv13858948, essv13859137, essv13858987, essv13858705, essv13858840, essv13858961, essv13859033, essv13858857, essv13858920, essv13859013, essv13859040, essv13858747, essv13858725, essv13858709, essv13858855, essv13858908, essv13858704, essv13858841, essv13859094, essv13858972, essv13859100, essv13859110, essv13859000, essv13858818, essv13858921, essv13858685, essv13858929, essv13859082, essv13858642, essv13859126, essv13859136, essv13858646, essv13859128, essv13858758, essv13858756, essv13858935, essv13858978, essv13858833, essv13858736, essv13858719, essv13858697, essv13858772, essv13858776, essv13858952, essv13859047, essv13858995, essv13858955, essv13858730, essv13858936, essv13859079, essv13858788, essv13858659, essv13858665, essv13858885, essv13859025, essv13859097, essv13859024, essv13858869, essv13859144, essv13858712, essv13858870, essv13859015, essv13858698, essv13858792, essv13858817, essv13859022, essv13858663, essv13858837, essv13858635, essv13858773, essv13858945, essv13858640, essv13859091, essv13859099, essv13859051, essv13859153, essv13859055, essv13858641, essv13858801, essv13858795, essv13858638, essv13859086, essv13858903, essv13859032, essv13858707, essv13858713, essv13858797, essv13858958, essv13858986, essv13858820, essv13859114, essv13859152, essv13858829, essv13859149, essv13859112, essv13858662, essv13858779, essv13859107, essv13858898, essv13859029, essv13858716, essv13858623, essv13858645, essv13858944, essv13858859, essv13859026, essv13858671, essv13859073, essv13858625, essv13858856, essv13858660, essv13858834, essv13858634, essv13859003, essv13858731, essv13859052, essv13858877, essv13858690, essv13858871, essv13859125, essv13858996, essv13858880, essv13859093, essv13858844, essv13858900, essv13859069, essv13858732, essv13858879, essv13859133, essv13858808, essv13858830, essv13858970, essv13859004, essv13858805, essv13858982, essv13858632, essv13859050, essv13858738, essv13858977, essv13858787, essv13858899, essv13858765, essv13858850, essv13859121, essv13858816, essv13858692, essv13858836, essv13859104, essv13859081, essv13859101, essv13859148, essv13859124, essv13858702, essv13858791, essv13858867, essv13858963, essv13858947, essv13859065, essv13858813, essv13858821, essv13858708, essv13858729, essv13858882, essv13858993, essv13858843, essv13858931, essv13858768, essv13858865, essv13858925, essv13858934, essv13858942, essv13858984, essv13858992, essv13858814, essv13858832, essv13859019, essv13858718, essv13858722, essv13858760, essv13858669, essv13858928, essv13858872, essv13858881, essv13859049, essv13858639, essv13858737, essv13859061, essv13858848, essv13859045, essv13858681, essv13858728, essv13858794, essv13859111, essv13859057, essv13858915, essv13859043, essv13859095, essv13858667, essv13858790, essv13858926, essv13859147, essv13858887, essv13858913, essv13858919, essv13858744, essv13859039, essv13859143, essv13858927, essv13858774, essv13858910, essv13858983, essv13858981, essv13858771, essv13858644, essv13858643, essv13858648, essv13858811, essv13858721, essv13858904, essv13858971, essv13858975, essv13859119, essv13859071, essv13859106, essv13858822, essv13859138, essv13858661, essv13858868, essv13859009, essv13858954, essv13859075, essv13859016, essv13859038, essv13859131, essv13858636, essv13859066, essv13858985, essv13859002, essv13858969, essv13858650, essv13858656, essv13858735, essv13858793, essv13859076, essv13858862, essv13859146, essv13859103, essv13859134, essv13858720, essv13858629, essv13859109, essv13858677, essv13858897, essv13858994, essv13858968, essv13858990, essv13859102, essv13858851, essv13859018, essv13859062, essv13858724, essv13858754, essv13858826, essv13858886, essv13858892, essv13858670, essv13858695, essv13859108, essv13858781, essv13858854, essv13859141, essv13859145, essv13858799, essv13858804, essv13858839, essv13858740, essv13858922, essv13859067, essv13858951, essv13858966, essv13858631, essv13858753, essv13858930, essv13859158, essv13858706, essv13858876, essv13858770, essv13858800, essv13859078, essv13858896, essv13858997, essv13858693, essv13858889, essv13858905, essv13858701, essv13858658, essv13858757, essv13858759, essv13858622, essv13859155, essv13859064, essv13859087, essv13858748, essv13858784, essv13858723, essv13858888, essv13858914, essv13859105, essv13859154, essv13858657, essv13859053, essv13858860, essv13858751, essv13858962, essv13858812, essv13858653, essv13858733, essv13859037, essv13859046, essv13859113, essv13858810, essv13858819, essv13858858, essv13859123, essv13858647, essv13858652, essv13858894, essv13858891, essv13858775, essv13859132, essv13858806, essv13858991, essv13859072, essv13858699, essv13858746, essv13859088, essv13858680, essv13858842, essv13858924, essv13858782, essv13859085, essv13858624, essv13858676, essv13858649, essv13859017, essv13859151, essv13858630, essv13858654, essv13858967, essv13859010, essv13858682, essv13859027, essv13858678, essv13859044, essv13859157, essv13858874, essv13858959, essv13858964, essv13858989, essv13858767, essv13858749, essv13858923, essv13858828, essv13859006, essv13858762, essv13858687, essv13858715, essv13858907, essv13859056, essv13858796, essv13858949, essv13858668, essv13859070, essv13858664, essv13858847, essv13858861, essv13859028, essv13859150, essv13858628, essv13858863, essv13858694, essv13858980, essv13858845, essv13858918, essv13858943, essv13859014, essv13858802, essv13858780, essv13858912, essv13858831, essv13859135, essv13858675, essv13858688, essv13858689, essv13858741, essv13858637, essv13858906, essv13858933, essv13858999, essv13858703, essv13858950, essv13858960, essv13858890, essv13858932, essv13858940, essv13858621, essv13858700, essv13858734, essv13858763, essv13858783, essv13858803, essv13858633, essv13858957, essv13859074, essv13858742, essv13858853, essv13858745, essv13858941, essv13858798, essv13858902, essv13858691, essv13859021, essv13858785, essv13858852, essv13859007, essv13858673, essv13858786, essv13859092, essv13858626, essv13858965, essv13858655, essv13858672, essv13858764, essv13858627, essv13858674, essv13858875, essv13859005, essv13858916, essv13858878, essv13858893, essv13858711, essv13859060, essv13858710, essv13858835, essv13858895, essv13858917, essv13858696, essv13858739, essv13858825, essv13858864, essv13858953, essv13858823
SamplesHG00380, NA18870, NA19312, NA12154, HG01770, HG03015, HG03705, NA20351, HG02649, HG02597, NA19081, HG03631, HG00129, HG00328, HG00978, HG01089, HG00705, HG00351, HG01173, NA11920, HG03856, NA20510, HG02727, HG00186, NA12347, NA20544, NA20796, HG03129, HG00155, HG01277, NA20531, HG04096, HG02223, HG01777, HG01845, NA20296, HG02648, NA20759, HG01403, HG00614, HG01365, HG04090, HG00189, HG01615, NA20902, NA19331, HG01082, HG01488, NA12828, NA19795, HG00428, HG01174, NA20889, HG00368, HG02884, NA20894, HG01350, HG03920, NA12005, HG00364, HG02694, NA18546, HG01167, HG01507, HG02497, HG04118, HG03103, NA20897, HG00111, NA18963, HG04001, NA19651, HG03491, HG01101, HG01168, NA19682, HG04200, HG00113, HG03714, NA20798, HG03808, NA12287, NA20521, HG01682, HG03863, HG00290, HG02308, HG03803, HG03836, HG03817, HG02259, HG02402, HG01107, HG03955, HG02731, HG00158, NA20856, HG00242, HG02775, HG00346, HG04206, NA19735, HG01392, NA12004, NA21097, HG00349, NA20764, HG01248, HG01305, HG01378, HG00358, HG02221, HG02554, HG01122, HG04153, HG01866, HG00692, HG01088, HG03717, HG04198, NA18636, HG01124, HG03787, NA12761, HG00149, HG02410, HG03007, HG03793, HG01684, NA21119, HG01360, HG02348, NA11831, NA20520, HG01161, HG04042, NA11995, HG00174, HG03603, HG00243, HG00276, HG00284, NA19036, NA21094, HG00343, HG01362, HG01747, NA20847, HG02737, HG02076, NA12751, HG00373, HG03757, NA19360, HG00267, HG01111, HG01097, NA18640, NA18747, NA19771, HG01516, HG02054, HG03792, NA19374, NA21128, HG00640, NA12778, HG00325, HG03854, HG03870, HG00255, HG00365, NA20852, NA21112, HG01773, HG03934, NA19664, HG00265, HG01670, NA18978, NA11892, HG00277, HG00103, HG01080, HG03788, NA20797, NA19720, HG01260, HG03645, HG04162, NA21092, HG01341, HG03823, HG00236, HG01077, HG01512, HG01531, HG01921, HG00120, HG00109, NA12890, NA20525, HG01190, NA20756, HG04033, NA19794, HG03589, HG00717, HG01695, NA20827, HG02238, HG04019, HG03238, NA20850, HG01256, NA12889, HG03267, HG03925, NA21087, NA19818, HG01390, HG03105, HG03999, NA12878, NA18614, NA18879, HG03708, NA11830, NA19225, NA12546, HG00142, HG01947, HG03139, NA20543, HG01108, NA20872, NA20792, NA11829, HG01177, HG00320, HG00275, HG01842, HG04015, NA12717, NA12874, NA19204, NA19113, HG00598, NA20806, HG03695, HG00622, HG01890, HG03907, HG00271, HG04182, HG01474, HG00126, HG02512, HG01578, HG04107, HG01686, HG03689, HG00323, HG01372, HG03821, NA12827, HG01515, HG00881, HG01359, HG01775, NA12249, NA21142, NA12750, HG01790, NA20514, NA12748, HG01675, HG01603, HG01612, HG01700, NA20278, HG01250, NA20503, HG03985, HG00344, HG01302, HG04003, NA20785, NA20868, NA20866, HG01075, HG03977, HG04156, NA20506, HG01918, HG01055, HG04202, HG03703, NA07056, HG01064, HG00369, HG03874, HG01944, HG00736, HG00310, HG00384, HG01054, HG01098, NA06989, HG01624, NA19670, HG02260, HG03969, HG01085, HG02974, HG00117, HG01492, HG04026, HG01685, HG04183, HG00173, HG01704, HG00190, HG01182, HG01131, HG01771, NA20900, NA19834, NA20588, HG02790, HG01571, HG00366, HG02232, NA11893, NA20895, HG03928, HG01525, HG01348, HG03947, HG01841, NA12341, NA19776, HG01133, HG00256, HG04076, HG00115, HG01254, HG03690, HG01924, NA19914, NA20761, HG01982, NA19428, NA12843, NA20885, HG01510, NA20819, NA20515, NA19652, NA12383, HG00337, HG00180, NA18563, NA07357, NA19900, HG01595, HG02292, HG03686, NA19792, HG00372, HG01495, HG01851, HG02658, NA20801, NA20807, NA12814, HG00141, HG04194, NA20762, NA19440, NA11933, NA20541, NA20765, NA20882, HG03871, HG01977, NA12829, HG01527, HG00264, NA19773, HG02356, NA19663, NA19679, HG00403, HG01628, HG03600, NA18634, HG00237, HG00133, NA20773, HG02224, HG02239, HG00742, HG03773, HG02304, NA20901, NA12046, NA19785, HG00108, NA18620, HG02383, NA18645, HG00360, NA20536, HG02102, HG01989, NA06985, NA20826, HG01914, HG03919, HG00260, HG04173, NA20864, HG02439, NA20822, HG03944, HG00282, HG03974, HG01176, HG02971, HG01699, NA20818, HG00116, HG03518, HG02780, HG02384, NA18988, NA20821, HG00341, HG01447, HG00105, HG00246, HG01060, NA21095, NA19307, HG03767, HG01149, HG01979, HG02345, NA21103, HG01259, NA11832, HG01566, NA10851, NA20581, HG01063, HG01162, HG00595, NA19038, HG00181, HG01334, HG03789, HG03790, NA12749, HG02182, HG03679, NA20332, NA20799, NA06984, HG01953, HG02134, HG02688, HG00138, HG02604, NA12156, NA20867, NA19741, HG00262, HG01112, NA18971, HG00311, NA18577, NA19649, NA20513, NA18533, NA18864, NA11992, NA20846, HG00281, HG01783, HG00235, NA12399, NA20812, NA12842, NA19655, HG03369, NA20832, HG01251, HG00367, HG02286, HG01125, HG03814, NA20768, NA20528, HG02136, HG01522, HG03012, HG01631, HG00143, HG00476, NA19448, HG03826, HG01789, HG02493, NA19200, NA20519, HG01710, HG02774, NA19065, HG01503, NA07000, NA12775, HG01067, HG00361, HG02282, HG02610, HG01607, HG03136, HG01610, HG01761, HG04225, HG00309, NA20787, NA20771, HG01530, HG00234, HG01519, NA12342
Known GenesADAMTS14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623768
Frequency
Sample Size2504
Observed Gain0
Observed Loss538
Observed Complex0
Frequencyn/a


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