A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630526



Internal ID6670662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99400153..99408994hg38UCSC Ensembl
Innerchr12:99400169..99408979hg38UCSC Ensembl
Outerchr12:99400138..99409010hg38UCSC Ensembl
chr12:99793931..99802772hg19UCSC Ensembl
Innerchr12:99793947..99802757hg19UCSC Ensembl
Outerchr12:99793916..99802788hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388842
hg198842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14586500, essv14586540, essv14586870, essv14586739, essv14586841, essv14586688, essv14586592, essv14586677, essv14586486, essv14586830, essv14586731, essv14586519, essv14586652, essv14586432, essv14586502, essv14586573, essv14586589, essv14586767, essv14586543, essv14586615, essv14586676, essv14586740, essv14586584, essv14586469, essv14586525, essv14586671, essv14586861, essv14586884, essv14586571, essv14586685, essv14586538, essv14586691, essv14586714, essv14586813, essv14586812, essv14586780, essv14586549, essv14586792, essv14586631, essv14586496, essv14586705, essv14586860, essv14586494, essv14586527, essv14586854, essv14586473, essv14586829, essv14586850, essv14586536, essv14586563, essv14586741, essv14586881, essv14586796, essv14586568, essv14586815, essv14586458, essv14586457, essv14586461, essv14586625, essv14586722, essv14586839, essv14586799, essv14586464, essv14586699, essv14586462, essv14586638, essv14586680, essv14586478, essv14586550, essv14586531, essv14586622, essv14586517, essv14586825, essv14586795, essv14586454, essv14586659, essv14586735, essv14586505, essv14586877, essv14586537, essv14586450, essv14586471, essv14586763, essv14586814, essv14586546, essv14586750, essv14586624, essv14586786, essv14586442, essv14586844, essv14586509, essv14586533, essv14586749, essv14586848, essv14586534, essv14586753, essv14586480, essv14586873, essv14586849, essv14586879, essv14586686, essv14586783, essv14586566, essv14586628, essv14586583, essv14586448, essv14586709, essv14586522, essv14586751, essv14586539, essv14586704, essv14586862, essv14586562, essv14586438, essv14586708, essv14586734, essv14586594, essv14586805, essv14586818, essv14586485, essv14586603, essv14586501, essv14586498, essv14586606, essv14586514, essv14586713, essv14586821, essv14586465, essv14586674, essv14586806, essv14586439, essv14586629, essv14586459, essv14586544, essv14586781, essv14586683, essv14586456, essv14586721, essv14586701, essv14586548, essv14586554, essv14586510, essv14586650, essv14586466, essv14586430, essv14586761, essv14586591, essv14586672, essv14586846, essv14586515, essv14586827, essv14586447, essv14586787, essv14586646, essv14586444, essv14586869, essv14586641, essv14586689, essv14586541, essv14586595, essv14586738, essv14586644, essv14586890, essv14586728, essv14586532, essv14586553, essv14586716, essv14586673, essv14586633, essv14586719, essv14586440, essv14586880, essv14586495, essv14586707, essv14586712, essv14586793, essv14586604, essv14586776, essv14586798, essv14586626, essv14586744, essv14586630, essv14586449, essv14586499, essv14586655, essv14586725, essv14586757, essv14586771, essv14586662, essv14586858, essv14586882, essv14586600, essv14586694, essv14586784, essv14586785, essv14586567, essv14586764, essv14586487, essv14586574, essv14586754, essv14586817, essv14586431, essv14586491, essv14586746, essv14586868, essv14586598, essv14586621, essv14586876, essv14586467, essv14586477, essv14586596, essv14586752, essv14586524, essv14586434, essv14586597, essv14586669, essv14586824, essv14586889, essv14586791, essv14586556, essv14586755, essv14586435, essv14586826, essv14586492, essv14586807, essv14586572, essv14586690, essv14586816, essv14586475, essv14586643, essv14586768, essv14586777, essv14586891, essv14586513, essv14586526, essv14586811, essv14586452, essv14586778, essv14586822, essv14586874, essv14586599, essv14586667, essv14586482, essv14586601, essv14586520, essv14586772, essv14586468, essv14586588, essv14586579, essv14586577, essv14586587, essv14586661, essv14586649, essv14586710, essv14586627, essv14586855, essv14586614, essv14586481, essv14586613, essv14586703, essv14586665, essv14586474, essv14586747, essv14586748, essv14586802, essv14586451, essv14586642, essv14586790, essv14586857, essv14586678, essv14586620, essv14586718, essv14586698, essv14586819, essv14586443, essv14586697, essv14586760, essv14586692, essv14586762, essv14586433, essv14586445, essv14586651, essv14586489, essv14586617, essv14586836, essv14586511, essv14586852, essv14586823, essv14586840, essv14586581, essv14586675, essv14586759, essv14586590, essv14586769, essv14586518, essv14586658, essv14586493, essv14586602, essv14586808, essv14586732, essv14586834, essv14586727, essv14586863, essv14586736, essv14586885, essv14586555, essv14586463, essv14586455, essv14586490, essv14586835, essv14586569, essv14586575, essv14586842, essv14586794, essv14586559, essv14586838, essv14586845, essv14586610, essv14586446, essv14586653, essv14586657, essv14586645, essv14586820, essv14586887, essv14586875, essv14586745, essv14586609, essv14586687, essv14586472, essv14586529, essv14586558, essv14586636, essv14586580, essv14586561, essv14586545, essv14586497, essv14586717, essv14586582, essv14586801, essv14586535, essv14586656, essv14586758, essv14586837, essv14586441, essv14586632, essv14586640, essv14586634, essv14586488, essv14586647, essv14586607, essv14586664, essv14586695, essv14586847, essv14586547, essv14586460, essv14586729, essv14586843, essv14586637, essv14586453, essv14586557, essv14586521, essv14586585, essv14586666, essv14586831, essv14586789, essv14586742, essv14586663, essv14586720, essv14586859, essv14586679, essv14586623, essv14586670, essv14586507, essv14586770, essv14586551, essv14586681, essv14586828, essv14586648, essv14586743, essv14586682, essv14586723, essv14586853, essv14586476, essv14586608, essv14586867, essv14586506, essv14586552, essv14586700, essv14586832, essv14586528, essv14586618, essv14586593, essv14586765, essv14586851, essv14586564, essv14586756, essv14586570, essv14586611, essv14586635, essv14586437, essv14586730, essv14586809, essv14586810, essv14586775, essv14586833, essv14586782, essv14586542, essv14586773, essv14586726, essv14586504, essv14586803, essv14586871, essv14586733, essv14586715, essv14586878, essv14586586, essv14586774, essv14586560, essv14586702, essv14586883, essv14586508, essv14586616, essv14586865, essv14586612, essv14586605, essv14586639, essv14586888, essv14586668, essv14586706, essv14586516, essv14586436, essv14586530, essv14586654, essv14586696, essv14586693, essv14586788, essv14586779, essv14586512, essv14586804, essv14586576, essv14586737, essv14586864, essv14586886, essv14586565, essv14586523, essv14586766, essv14586866, essv14586660, essv14586484, essv14586503, essv14586619, essv14586724, essv14586684, essv14586483, essv14586711, essv14586800, essv14586856, essv14586872, essv14586479, essv14586470, essv14586797, essv14586578
SamplesHG01610, HG00380, NA19146, HG01776, HG03135, NA18870, NA19248, HG03160, HG02657, HG02882, HG01440, NA19214, NA19712, HG00257, HG03279, NA19904, HG01530, HG02649, HG03382, NA20527, HG03479, NA18871, HG00234, HG00551, NA19437, NA19209, NA18501, HG00131, NA20544, HG02549, HG01105, HG03741, HG00155, HG01277, NA20531, NA20346, HG02223, NA19223, HG01079, HG01389, HG02648, HG03189, NA20759, HG01197, HG01403, HG04056, NA18516, HG01325, NA19334, HG02946, HG01174, NA20889, NA19920, HG03111, HG00739, HG03432, NA19379, HG02471, HG02497, NA12058, HG03103, NA20805, HG00355, HG00187, NA07051, NA19378, HG02274, HG02817, HG01134, HG03833, NA19257, HG00177, HG01142, HG03380, HG00737, HG03268, HG01936, HG01682, HG01171, HG00353, HG02973, HG03049, HG00290, HG02308, HG02982, NA12414, HG02585, NA20412, HG03558, NA19028, HG01107, HG01765, HG02588, NA20505, HG00242, NA19314, HG03193, HG03451, HG01312, HG01375, NA12004, NA19309, NA20764, HG01305, NA19917, NA20811, HG00259, NA19443, HG02221, NA19471, HG01048, NA20530, HG01694, HG02012, NA19096, NA19908, HG00149, HG03052, HG01684, HG00125, HG01360, HG00174, HG03603, HG03079, HG03781, NA12777, HG01362, HG01747, NA12144, NA19042, NA21102, NA19324, HG02757, NA19190, NA19372, HG03391, NA20760, NA19024, NA20348, NA12778, HG00185, HG00263, HG00365, NA19119, HG00099, HG02573, HG02623, HG02807, HG01281, HG02558, HG01069, HG02938, HG00102, HG03096, HG00103, HG01351, HG02511, NA20542, HG02852, NA12283, HG01702, NA18910, HG01077, HG01512, NA20355, HG02624, HG02881, HG00109, HG02219, NA19235, NA19138, NA19376, HG03303, HG02819, NA19035, HG01345, HG03045, HG03246, HG02953, NA19741, HG03267, NA19431, HG01303, NA20287, HG03078, HG02144, NA19755, NA19446, HG02561, HG03105, NA12878, NA18879, HG01412, HG03123, NA19452, NA18864, NA19740, NA19749, HG00281, HG00285, HG01783, HG02589, HG02702, HG03074, HG00235, HG01886, NA12399, HG00142, HG02464, HG02256, HG03258, HG01912, NA18924, HG02476, NA19752, NA20758, NA19315, NA20792, HG01119, HG03060, HG01125, HG02642, HG01498, HG03557, HG01985, HG03271, NA20528, HG00641, NA19204, HG01374, HG03117, HG01522, HG03012, HG01489, HG02620, HG03515, NA18908, NA19473, NA20804, HG01479, HG00143, HG01110, HG01678, HG03517, HG01789, NA20538, HG02860, NA19200, NA19750, HG00278, HG02855, NA19661, NA20519, HG02095, HG01602, HG02820, HG02215, NA18519, HG01503, NA20339, HG02769, HG01354, HG03095, HG02839, HG02610, HG02580, NA19913, HG02427, HG00313, HG03058, NA19445, NA18861, HG00318, NA12750, HG01241, HG01603, NA19321, NA20890, HG01700, NA20278, HG03521, HG03280, HG00344, HG01052, NA19222, HG01075, NA19404, HG00127, HG03342, HG01342, HG00369, HG02983, HG03304, HG01506, HG02759, NA19149, HG00310, HG00384, HG00261, HG01054, HG03295, HG01098, NA06989, NA20299, HG02006, NA20881, HG01624, HG03301, NA20775, NA19670, HG02943, NA11931, HG01085, NA18877, HG02952, HG03046, HG03265, HG02885, HG00326, HG00553, HG01704, NA19461, HG02314, NA19210, HG00106, HG02231, NA19834, NA20588, HG01188, HG01500, NA12776, NA19648, HG02232, NA19108, HG01525, NA19355, NA19474, HG03394, HG02583, NA19308, NA19467, HG01551, HG01504, HG01784, NA19043, HG01435, HG03376, HG00342, NA20532, HG00154, HG01254, HG02053, NA19428, NA20585, HG02981, NA18912, NA19982, NA20854, NA12843, HG00371, NA18934, HG03127, HG01456, HG01510, HG02654, NA20356, NA20515, NA19652, HG01414, HG00337, HG00180, HG01623, NA20504, NA19020, NA19792, NA20783, HG00372, HG02658, NA20754, NA18856, HG03241, NA18876, HG02763, HG03445, HG01556, NA20282, NA19773, HG01707, NA19658, HG00637, NA19679, NA21144, HG00357, HG02756, HG00133, HG03063, NA19213, HG02888, HG03731, HG00108, HG03195, HG01308, NA20536, HG02562, HG03914, NA18498, NA18486, HG01914, HG03919, HG01455, HG03511, HG02594, HG02804, NA18502, HG03472, HG01073, HG00239, HG00282, HG02611, HG03097, HG03514, HG00232, HG01176, HG02971, NA12872, NA19175, NA18858, HG01257, HG02111, NA19347, NA19332, NA19909, HG03428, NA19707, HG01509, HG01767, NA19131, NA19159, HG01060, HG03291, HG02479, NA19462, HG03115, HG03175, HG01979, HG03352, HG03363, NA20581, HG01757, HG03446, HG01393, HG00181, HG01405, HG02235, HG03499, NA12749, NA18915, NA20332, NA06984, NA19394, HG00138, HG02629
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630526
Frequency
Sample Size2504
Observed Gain0
Observed Loss462
Observed Complex0
Frequencyn/a


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