A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631178



Internal ID7017990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129523693..129772441hg38UCSC Ensembl
chr12:130008238..130256986hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38248749
hg19248749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14630463, essv14630370, essv14630562, essv14630542, essv14630426, essv14630585, essv14630572, essv14630529, essv14630475, essv14630511, essv14630390, essv14630306, essv14630461, essv14630393, essv14630337, essv14630371, essv14630394, essv14630561, essv14630545, essv14630458, essv14630512, essv14630408, essv14630483, essv14630386, essv14630302, essv14630505, essv14630439, essv14630537, essv14630441, essv14630584, essv14630571, essv14630338, essv14630287, essv14630588, essv14630360, essv14630494, essv14630419, essv14630299, essv14630601, essv14630550, essv14630582, essv14630381, essv14630354, essv14630395, essv14630564, essv14630349, essv14630401, essv14630414, essv14630316, essv14630310, essv14630372, essv14630368, essv14630566, essv14630536, essv14630376, essv14630317, essv14630514, essv14630508, essv14630547, essv14630450, essv14630274, essv14630327, essv14630311, essv14630283, essv14630330, essv14630575, essv14630563, essv14630363, essv14630484, essv14630392, essv14630488, essv14630474, essv14630482, essv14630397, essv14630315, essv14630278, essv14630464, essv14630492, essv14630410, essv14630427, essv14630460, essv14630431, essv14630596, essv14630440, essv14630437, essv14630367, essv14630603, essv14630500, essv14630504, essv14630468, essv14630391, essv14630365, essv14630428, essv14630515, essv14630282, essv14630272, essv14630478, essv14630429, essv14630402, essv14630344, essv14630481, essv14630319, essv14630346, essv14630471, essv14630594, essv14630549, essv14630579, essv14630362, essv14630531, essv14630418, essv14630540, essv14630485, essv14630276, essv14630487, essv14630286, essv14630506, essv14630459, essv14630451, essv14630600, essv14630277, essv14630424, essv14630275, essv14630445, essv14630384, essv14630495, essv14630553, essv14630405, essv14630340, essv14630521, essv14630447, essv14630548, essv14630519, essv14630345, essv14630602, essv14630308, essv14630294, essv14630527, essv14630288, essv14630328, essv14630352, essv14630604, essv14630587, essv14630452, essv14630477, essv14630489, essv14630438, essv14630343, essv14630335, essv14630530, essv14630423, essv14630347, essv14630350, essv14630270, essv14630406, essv14630269, essv14630434, essv14630476, essv14630578, essv14630570, essv14630568, essv14630560, essv14630448, essv14630292, essv14630334, essv14630356, essv14630307, essv14630364, essv14630348, essv14630522, essv14630305, essv14630400, essv14630355, essv14630342, essv14630517, essv14630309, essv14630312, essv14630559, essv14630323, essv14630552, essv14630567, essv14630383, essv14630453, essv14630303, essv14630300, essv14630510, essv14630457, essv14630413, essv14630399, essv14630472, essv14630577, essv14630449, essv14630470, essv14630469, essv14630541, essv14630595, essv14630388, essv14630599, essv14630454, essv14630466, essv14630389, essv14630467, essv14630373, essv14630490, essv14630379, essv14630586, essv14630409, essv14630341, essv14630273, essv14630513, essv14630416, essv14630329, essv14630520, essv14630555, essv14630544, essv14630507, essv14630412, essv14630281, essv14630361, essv14630280, essv14630398, essv14630583, essv14630532, essv14630509, essv14630533, essv14630499, essv14630496, essv14630415, essv14630546, essv14630430, essv14630525, essv14630375, essv14630417, essv14630407, essv14630324, essv14630576, essv14630285, essv14630480, essv14630538, essv14630557, essv14630534, essv14630526, essv14630325, essv14630366, essv14630556, essv14630491, essv14630501, essv14630456, essv14630422, essv14630597, essv14630592, essv14630357, essv14630385, essv14630493, essv14630359, essv14630291, essv14630518, essv14630298, essv14630558, essv14630380, essv14630524, essv14630486, essv14630444, essv14630446, essv14630554, essv14630498, essv14630290, essv14630543, essv14630455, essv14630369, essv14630593, essv14630497, essv14630377, essv14630351, essv14630443, essv14630433, essv14630420, essv14630473, essv14630295, essv14630374, essv14630301, essv14630503, essv14630591, essv14630326, essv14630574, essv14630432, essv14630336, essv14630271, essv14630569, essv14630279, essv14630320, essv14630396, essv14630565, essv14630502, essv14630598, essv14630411, essv14630436, essv14630358, essv14630333, essv14630293, essv14630421, essv14630442, essv14630573, essv14630535, essv14630313, essv14630589, essv14630551, essv14630523, essv14630425, essv14630539, essv14630590, essv14630331, essv14630462, essv14630516, essv14630465, essv14630353, essv14630332, essv14630479, essv14630304, essv14630403, essv14630318, essv14630580, essv14630387, essv14630404, essv14630284, essv14630528, essv14630322, essv14630289, essv14630435, essv14630581, essv14630378, essv14630339, essv14630314, essv14630321, essv14630296, essv14630297, essv14630382
SamplesHG04210, NA20339, HG01850, HG01412, HG01402, HG01173, HG01918, HG03228, NA18647, HG04222, HG03687, HG03753, HG02784, HG02122, HG01326, HG03717, HG02727, HG02691, HG02600, HG03229, HG03018, HG02688, HG02536, HG03999, HG03679, HG03478, HG03782, HG02792, HG03837, HG03645, HG01325, HG03770, HG03016, HG02690, HG03754, HG03722, HG02069, HG04206, HG01968, HG03673, HG03736, HG03874, HG03663, HG03234, HG01063, HG04070, HG03978, HG02733, HG02603, HG00537, HG03917, HG01859, HG03619, HG02736, HG03691, HG01849, HG03947, HG04020, HG04047, HG01844, HG02780, HG02477, HG01967, NA21105, HG04075, HG03784, HG01851, HG03697, HG01847, HG03861, HG03685, HG03714, HG02793, HG02345, HG04039, HG01857, HG03786, HG01684, HG02731, HG03711, HG02775, HG03491, HG01142, HG03771, HG03775, HG02728, HG01077, HG02165, HG01323, HG03781, HG04235, HG03967, NA20867, HG03730, NA20903, HG03951, HG02577, HG03713, HG02787, HG02657, HG02121, HG03643, HG04017, HG04063, HG03971, HG02783, HG02724, HG02601, HG03752, HG03898, NA18593, HG04093, HG02127, HG03694, HG01075, HG00376, HG04200, HG03653, HG03720, HG03238, HG01858, NA20872, HG04025, HG03848, HG02557, HG04227, HG04006, HG04026, HG03875, HG02010, HG03708, HG02546, HG01878, HG03949, HG02790, HG03695, HG03692, NA20870, HG02304, HG01874, HG01396, NA19010, HG03702, HG02580, HG03727, HG03779, HG03703, HG04080, HG02700, HG03642, HG03849, HG04014, HG03733, HG02079, HG01846, HG01302, HG03716, HG04098, HG01600, HG03872, HG02681, HG02774, HG01920, HG02778, HG03867, HG03985, HG04198, HG03741, NA20762, HG04212, NA20874, HG01060, HG03773, HG01413, HG03857, HG03652, HG00536, HG03965, NA19466, HG03731, HG01961, HG03960, HG03237, HG01855, HG04229, HG02648, HG02262, HG04202, HG03738, HG04211, HG02150, HG02275, HG04094, HG01305, HG02476, HG03668, HG03963, HG03772, HG04018, HG01971, HG03895, HG03667, HG02734, HG03944, HG04001, HG03950, HG03235, HG04100, HG01953, HG03705, HG03640, HG04022, HG03757, HG01853, HG02491, HG03976, HG03873, HG02687, HG02549, HG01843, HG01599, HG02655, HG03479, HG01848, HG01982, HG02786, HG01242, HG03868, HG03851, HG01893, HG04214, HG03986, HG03968, HG01170, HG01072, HG03788, HG03746, HG03624, NA19471, HG03777, HG01176, NA21107, HG03693, HG04238, HG03995, HG03744, HG03750, HG01312, HG03862, HG03709, HG02009, HG02737, HG03844, HG03780, HG03785, HG02439, HG01841, HG00183, HG01187, HG04225, HG01871, HG03644, HG02697, HG03760, HG01162, HG04107, HG01088, HG04035, HG03945, HG04019, HG03756, HG02102, HG01852, HG02789, HG01092, HG01777, HG01615, HG01392, HG01311, HG01414, HG00844, HG04054, HG03660, HG03858, HG02494, HG01197, HG01241, HG03740, HG03625, HG01921, HG03745, HG03634, HG02081, HG02725, HG03991, HG01204, HG01992, HG02455, HG03866, HG03778, HG02684, HG03790, NA18952, HG01954, HG00742, HG04239, HG02682, HG03838, HG03899, HG03689, HG01977, HG03850, NA19786, HG03846, HG02685, HG04090, HG03019, HG01395, HG03789, HG01917, HG03896, HG03863, HG02699, HG04209, HG03684, HG01872, HG03894, HG03882, HG03856, HG04056, HG03890, HG03686, HG01695, HG01061, HG01976, NA20511
Known GenesTMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631178
Frequency
Sample Size2504
Observed Gain336
Observed Loss0
Observed Complex0
Frequencyn/a


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