A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621492



Internal ID6661671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111570881..111571643hg38UCSC Ensembl
Innerchr9:111570892..111571632hg38UCSC Ensembl
Outerchr9:111570870..111571654hg38UCSC Ensembl
chr9:114333161..114333923hg19UCSC Ensembl
Innerchr9:114333172..114333912hg19UCSC Ensembl
Outerchr9:114333150..114333934hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13602397, essv13602556, essv13602271, essv13602554, essv13602359, essv13602402, essv13602300, essv13602386, essv13602606, essv13602209, essv13602226, essv13602425, essv13602224, essv13602281, essv13602557, essv13602228, essv13602250, essv13602272, essv13602468, essv13602218, essv13602270, essv13602474, essv13602208, essv13602432, essv13602389, essv13602447, essv13602427, essv13602638, essv13602422, essv13602603, essv13602605, essv13602234, essv13602287, essv13602473, essv13602591, essv13602634, essv13602352, essv13602444, essv13602488, essv13602299, essv13602410, essv13602298, essv13602600, essv13602538, essv13602237, essv13602309, essv13602443, essv13602289, essv13602280, essv13602296, essv13602453, essv13602497, essv13602277, essv13602345, essv13602314, essv13602510, essv13602635, essv13602324, essv13602507, essv13602619, essv13602262, essv13602512, essv13602614, essv13602220, essv13602282, essv13602340, essv13602522, essv13602275, essv13602516, essv13602245, essv13602329, essv13602565, essv13602294, essv13602390, essv13602449, essv13602568, essv13602335, essv13602489, essv13602311, essv13602416, essv13602502, essv13602256, essv13602266, essv13602441, essv13602241, essv13602593, essv13602544, essv13602252, essv13602493, essv13602503, essv13602399, essv13602274, essv13602188, essv13602368, essv13602230, essv13602225, essv13602233, essv13602611, essv13602278, essv13602354, essv13602541, essv13602630, essv13602204, essv13602542, essv13602428, essv13602350, essv13602471, essv13602351, essv13602545, essv13602291, essv13602290, essv13602301, essv13602454, essv13602562, essv13602328, essv13602306, essv13602365, essv13602433, essv13602571, essv13602589, essv13602353, essv13602360, essv13602475, essv13602391, essv13602494, essv13602464, essv13602307, essv13602254, essv13602267, essv13602515, essv13602380, essv13602526, essv13602312, essv13602362, essv13602594, essv13602235, essv13602407, essv13602412, essv13602439, essv13602459, essv13602263, essv13602585, essv13602601, essv13602435, essv13602227, essv13602215, essv13602337, essv13602223, essv13602509, essv13602566, essv13602268, essv13602500, essv13602536, essv13602590, essv13602636, essv13602285, essv13602409, essv13602192, essv13602467, essv13602211, essv13602310, essv13602588, essv13602248, essv13602514, essv13602547, essv13602232, essv13602276, essv13602381, essv13602279, essv13602531, essv13602616, essv13602357, essv13602313, essv13602346, essv13602286, essv13602398, essv13602193, essv13602548, essv13602231, essv13602197, essv13602308, essv13602191, essv13602198, essv13602304, essv13602288, essv13602325, essv13602513, essv13602631, essv13602283, essv13602343, essv13602524, essv13602633, essv13602458, essv13602480, essv13602537, essv13602222, essv13602323, essv13602405, essv13602349, essv13602623, essv13602511, essv13602551, essv13602579, essv13602641, essv13602436, essv13602303, essv13602295, essv13602406, essv13602543, essv13602206, essv13602431, essv13602573, essv13602477, essv13602319, essv13602527, essv13602581, essv13602249, essv13602440, essv13602508, essv13602586, essv13602318, essv13602442, essv13602481, essv13602637, essv13602599, essv13602251, essv13602483, essv13602487, essv13602553, essv13602194, essv13602284, essv13602408, essv13602371, essv13602330, essv13602533, essv13602596, essv13602327, essv13602401, essv13602495, essv13602322, essv13602558, essv13602613, essv13602490, essv13602348, essv13602293, essv13602382, essv13602462, essv13602421, essv13602607, essv13602394, essv13602396, essv13602420, essv13602618, essv13602426, essv13602331, essv13602624, essv13602369, essv13602466, essv13602219, essv13602404, essv13602415, essv13602214, essv13602302, essv13602338, essv13602240, essv13602520, essv13602561, essv13602356, essv13602200, essv13602342, essv13602479, essv13602316, essv13602363, essv13602395, essv13602203, essv13602260, essv13602632, essv13602521, essv13602583, essv13602587, essv13602341, essv13602492, essv13602457, essv13602609, essv13602387, essv13602413, essv13602482, essv13602210, essv13602499, essv13602563, essv13602207, essv13602484, essv13602602, essv13602501, essv13602461, essv13602438, essv13602517, essv13602326, essv13602576, essv13602470, essv13602221, essv13602305, essv13602321, essv13602366, essv13602292, essv13602625, essv13602597, essv13602626, essv13602201, essv13602320, essv13602598, essv13602253, essv13602355, essv13602498, essv13602419, essv13602504, essv13602243, essv13602269, essv13602344, essv13602628, essv13602378, essv13602549, essv13602429, essv13602550, essv13602418, essv13602205, essv13602212, essv13602445, essv13602372, essv13602196, essv13602434, essv13602333, essv13602528, essv13602577, essv13602620, essv13602612, essv13602358, essv13602367, essv13602564, essv13602383, essv13602530, essv13602592, essv13602374, essv13602534, essv13602465, essv13602546, essv13602317, essv13602339, essv13602244, essv13602373, essv13602273, essv13602640, essv13602505, essv13602472, essv13602617, essv13602539, essv13602189, essv13602476, essv13602574, essv13602627, essv13602255, essv13602559, essv13602621, essv13602629, essv13602217, essv13602414, essv13602400, essv13602376, essv13602375, essv13602246, essv13602610, essv13602622, essv13602187, essv13602257, essv13602265, essv13602423, essv13602485, essv13602496, essv13602608, essv13602580, essv13602604, essv13602491, essv13602525, essv13602364, essv13602393, essv13602411, essv13602478, essv13602575, essv13602229, essv13602451, essv13602518, essv13602582, essv13602202, essv13602388, essv13602532, essv13602238, essv13602379, essv13602385, essv13602469, essv13602247, essv13602452, essv13602370, essv13602615, essv13602437, essv13602519, essv13602486, essv13602315, essv13602261, essv13602403, essv13602213, essv13602430, essv13602242, essv13602258, essv13602334, essv13602450, essv13602555, essv13602347, essv13602239, essv13602417, essv13602446, essv13602456, essv13602552, essv13602190, essv13602506, essv13602529, essv13602455, essv13602570, essv13602595, essv13602572, essv13602236, essv13602639, essv13602384, essv13602392, essv13602584, essv13602195, essv13602332, essv13602578, essv13602336, essv13602540, essv13602264, essv13602377, essv13602199, essv13602463, essv13602567, essv13602361, essv13602297, essv13602460, essv13602216, essv13602259, essv13602523, essv13602569, essv13602424, essv13602535, essv13602560, essv13602448
SamplesHG02140, HG00613, NA19012, NA18621, NA12489, HG01770, HG02250, HG02657, NA18605, HG03900, NA18595, NA18616, HG03861, HG00182, HG02371, NA18951, HG01284, NA20862, HG01852, HG02298, NA18535, NA18630, HG00956, HG03762, NA19081, HG00705, HG02661, NA18966, HG00500, NA18757, NA12347, HG00565, NA18526, HG01277, HG00632, NA11918, HG02792, HG02152, NA10847, NA18545, HG01389, HG02139, HG01031, HG00657, HG00614, HG02783, NA19788, NA20902, HG02681, HG04060, NA20800, HG01816, NA18953, HG01488, HG00428, NA20889, HG03642, HG02375, HG01167, NA12058, HG00683, HG00698, HG02660, NA18994, HG00581, HG01344, HG04002, HG00280, HG01861, NA19682, HG04020, HG03796, NA20798, HG03949, HG01860, HG04152, HG03808, NA18557, NA18745, NA20521, NA18625, NA18943, NA19761, NA18596, NA18628, NA18949, HG00269, HG00290, HG03803, HG00592, HG03652, NA19077, HG02312, NA19062, HG02731, HG00556, HG02390, NA20856, NA18979, NA19076, HG00421, HG02700, HG02394, HG01378, HG00358, HG04164, HG00096, NA18623, HG01583, NA18641, HG00728, NA18990, HG03636, NA18636, HG01965, HG02090, HG03770, HG03926, NA18592, NA19083, NA19088, NA18956, HG00533, HG01684, NA18609, HG00125, HG02078, NA19075, HG01867, HG03887, HG00634, NA18593, NA12777, HG01596, NA19082, NA20847, HG03895, NA19055, HG02392, HG03757, HG02151, NA19786, NA19080, HG01097, NA18640, HG01465, HG02382, HG00653, HG02285, HG00383, NA18968, HG01486, NA21107, HG00851, HG02073, NA19002, NA19664, HG00672, HG02017, HG02031, NA18961, HG01351, HG02087, NA20797, HG00534, HG00525, HG00599, HG01805, NA21092, HG02072, HG02084, HG04134, HG01531, HG02299, HG00674, HG02374, HG01094, NA18619, HG00445, HG01137, NA18597, HG01809, HG03691, NA19723, NA19078, HG03009, NA18995, HG01695, HG00650, HG01801, NA06984, NA18538, NA18740, HG01872, HG02134, NA18565, NA20518, HG03771, HG02230, HG01303, HG01862, HG00580, NA18971, HG00311, HG00448, HG03815, NA19755, HG02186, HG04035, HG02141, HG03905, NA20513, NA18548, NA18946, NA19749, NA18944, NA19063, HG01593, HG00656, HG01323, HG03607, HG01275, HG01366, HG03809, NA19732, HG03857, NA19006, NA18610, HG02682, HG00623, HG01119, NA11932, HG00566, HG03814, NA11829, HG02522, HG03830, HG03908, HG04189, HG01498, HG00690, HG01892, HG03850, NA18532, NA21105, HG00183, HG00442, HG00473, NA18981, HG00598, HG01102, HG03885, HG00626, HG01631, HG02391, HG03837, HG04171, HG01678, HG01781, HG02784, HG00476, HG01807, HG01857, NA20538, HG02064, HG03907, NA19007, HG01863, HG02130, HG02396, HG02425, NA19065, HG00531, NA18629, NA18553, HG00361, NA18962, HG01864, HG03684, NA12827, HG03832, HG01775, HG03698, HG00607, HG02165, HG01817, HG00344, HG02697, NA20866, HG04156, NA18561, HG02025, NA18952, HG03703, NA20906, HG00596, HG01849, NA19060, NA19090, HG01794, NA18639, NA20299, NA18993, NA18591, HG00452, HG03894, NA18969, NA20529, NA19010, HG02733, HG00173, HG00326, NA18608, HG03234, NA19782, HG03585, HG01029, HG00651, HG03765, HG01571, HG03229, NA11893, HG00331, HG01961, NA20895, HG00146, HG04100, HG01871, NA19084, HG00479, NA19654, HG01133, HG00256, HG01435, HG02003, NA19762, NA20532, HG00543, NA18559, NA19726, NA19067, NA20585, HG04210, NA12843, NA18624, HG03910, NA19054, NA21108, HG02137, HG03736, NA18992, HG01510, HG01796, HG00472, HG02397, HG01028, HG01865, NA18618, HG01595, NA19722, NA19792, HG00610, NA19011, NA20783, HG00372, HG01785, HG03911, HG01815, HG03862, HG04194, HG03727, NA19066, HG00631, NA19774, NA20765, HG00419, HG03871, NA18976, HG01113, HG02028, NA20282, HG03917, HG00403, HG00982, NA12830, HG03595, HG04227, NA18634, HG00237, HG01599, HG00584, HG03685, HG04185, NA18970, HG02224, HG01797, NA19676, NA21122, HG00620, NA19785, HG02383, NA19759, HG02019, HG02127, HG03998, HG01308, NA18572, NA20536, HG03995, HG00629, HG01806, NA20826, HG00559, HG02278, HG01121, HG04173, HG00560, NA18558, NA18977, HG01369, HG04080, HG04239, NA18749, HG00273, HG03619, HG03873, HG00478, NA18942, HG02494, HG00513, NA20582, HG04212, HG02384, HG00341, HG01447, NA18562, NA19074, HG01060, NA19091, HG00729, HG02180, HG02026, HG00410, HG01979, NA20858, HG02309, NA11832, HG01566, HG01162, HG00590, HG00595, NA18552, HG01326, HG03237, NA18983
Known GenesPTGR1, ZNF483
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621492
Frequency
Sample Size2504
Observed Gain0
Observed Loss455
Observed Complex0
Frequencyn/a


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