A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614334



Internal ID7001228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101415872..101416986hg38UCSC Ensembl
Innerchr7:101415873..101416986hg38UCSC Ensembl
Outerchr7:101415872..101416987hg38UCSC Ensembl
chr7:101059153..101060267hg19UCSC Ensembl
Innerchr7:101059154..101060267hg19UCSC Ensembl
Outerchr7:101059153..101060268hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12910167, essv12910416, essv12910405, essv12910376, essv12910310, essv12910506, essv12910683, essv12910438, essv12910141, essv12910169, essv12910398, essv12910125, essv12910524, essv12910277, essv12910237, essv12910387, essv12910354, essv12910409, essv12910604, essv12910406, essv12910561, essv12910220, essv12910380, essv12910319, essv12910139, essv12910247, essv12910373, essv12910617, essv12910362, essv12910661, essv12910463, essv12910365, essv12910430, essv12910557, essv12910153, essv12910180, essv12910633, essv12910278, essv12910695, essv12910536, essv12910407, essv12910311, essv12910274, essv12910346, essv12910501, essv12910168, essv12910444, essv12910323, essv12910525, essv12910251, essv12910450, essv12910507, essv12910314, essv12910640, essv12910338, essv12910239, essv12910368, essv12910164, essv12910677, essv12910282, essv12910491, essv12910468, essv12910186, essv12910158, essv12910259, essv12910253, essv12910635, essv12910611, essv12910513, essv12910607, essv12910614, essv12910159, essv12910480, essv12910690, essv12910587, essv12910624, essv12910334, essv12910451, essv12910189, essv12910256, essv12910674, essv12910576, essv12910631, essv12910397, essv12910219, essv12910181, essv12910449, essv12910227, essv12910554, essv12910178, essv12910658, essv12910497, essv12910203, essv12910137, essv12910663, essv12910465, essv12910324, essv12910322, essv12910475, essv12910284, essv12910596, essv12910556, essv12910188, essv12910519, essv12910599, essv12910538, essv12910172, essv12910569, essv12910582, essv12910419, essv12910653, essv12910268, essv12910443, essv12910608, essv12910581, essv12910396, essv12910657, essv12910333, essv12910597, essv12910590, essv12910483, essv12910680, essv12910466, essv12910457, essv12910609, essv12910374, essv12910618, essv12910689, essv12910622, essv12910230, essv12910347, essv12910404, essv12910539, essv12910685, essv12910161, essv12910286, essv12910265, essv12910570, essv12910564, essv12910233, essv12910129, essv12910194, essv12910445, essv12910272, essv12910467, essv12910629, essv12910652, essv12910171, essv12910351, essv12910552, essv12910128, essv12910226, essv12910205, essv12910628, essv12910484, essv12910248, essv12910477, essv12910133, essv12910472, essv12910583, essv12910585, essv12910529, essv12910271, essv12910522, essv12910360, essv12910316, essv12910152, essv12910372, essv12910339, essv12910574, essv12910408, essv12910415, essv12910192, essv12910518, essv12910211, essv12910446, essv12910630, essv12910600, essv12910639, essv12910567, essv12910420, essv12910173, essv12910130, essv12910190, essv12910565, essv12910242, essv12910471, essv12910276, essv12910138, essv12910523, essv12910232, essv12910601, essv12910399, essv12910548, essv12910394, essv12910485, essv12910500, essv12910361, essv12910455, essv12910199, essv12910588, essv12910516, essv12910602, essv12910440, essv12910197, essv12910660, essv12910214, essv12910343, essv12910503, essv12910163, essv12910641, essv12910619, essv12910182, essv12910244, essv12910668, essv12910442, essv12910589, essv12910275, essv12910512, essv12910464, essv12910216, essv12910636, essv12910686, essv12910537, essv12910215, essv12910684, essv12910252, essv12910342, essv12910553, essv12910185, essv12910385, essv12910151, essv12910452, essv12910196, essv12910546, essv12910693, essv12910270, essv12910336, essv12910317, essv12910688, essv12910672, essv12910221, essv12910157, essv12910654, essv12910224, essv12910559, essv12910335, essv12910678, essv12910325, essv12910432, essv12910146, essv12910345, essv12910594, essv12910555, essv12910515, essv12910670, essv12910195, essv12910478, essv12910650, essv12910510, essv12910620, essv12910584, essv12910662, essv12910281, essv12910571, essv12910290, essv12910533, essv12910605, essv12910505, essv12910462, essv12910592, essv12910166, essv12910145, essv12910386, essv12910187, essv12910655, essv12910499, essv12910494, essv12910395, essv12910370, essv12910530, essv12910225, essv12910543, essv12910613, essv12910258, essv12910664, essv12910264, essv12910540, essv12910357, essv12910659, essv12910222, essv12910392, essv12910676, essv12910488, essv12910603, essv12910340, essv12910330, essv12910453, essv12910285, essv12910645, essv12910245, essv12910413, essv12910586, essv12910383, essv12910231, essv12910679, essv12910378, essv12910681, essv12910212, essv12910439, essv12910527, essv12910358, essv12910132, essv12910318, essv12910267, essv12910307, essv12910280, essv12910651, essv12910470, essv12910381, essv12910459, essv12910421, essv12910262, essv12910634, essv12910577, essv12910371, essv12910353, essv12910509, essv12910388, essv12910393, essv12910348, essv12910200, essv12910175, essv12910560, essv12910697, essv12910326, essv12910573, essv12910217, essv12910315, essv12910429, essv12910295, essv12910435, essv12910411, essv12910422, essv12910401, essv12910402, essv12910303, essv12910291, essv12910427, essv12910213, essv12910283, essv12910461, essv12910412, essv12910403, essv12910344, essv12910234, essv12910249, essv12910304, essv12910580, essv12910352, essv12910486, essv12910287, essv12910202, essv12910209, essv12910517, essv12910479, essv12910627, essv12910350, essv12910150, essv12910379, essv12910299, essv12910331, essv12910154, essv12910155, essv12910364, essv12910694, essv12910174, essv12910626, essv12910143, essv12910625, essv12910542, essv12910558, essv12910426, essv12910545, essv12910382, essv12910301, essv12910369, essv12910294, essv12910616, essv12910598, essv12910135, essv12910648, essv12910671, essv12910481, essv12910458, essv12910595, essv12910410, essv12910156, essv12910563, essv12910142, essv12910682, essv12910367, essv12910179, essv12910535, essv12910165, essv12910414, essv12910534, essv12910140, essv12910431, essv12910673, essv12910206, essv12910541, essv12910273, essv12910612, essv12910454, essv12910306, essv12910441, essv12910288, essv12910363, essv12910356, essv12910433, essv12910591, essv12910575, essv12910637, essv12910204, essv12910400, essv12910526, essv12910131, essv12910638, essv12910456, essv12910305, essv12910692, essv12910487, essv12910144, essv12910297, essv12910495, essv12910293, essv12910279, essv12910550, essv12910193, essv12910308, essv12910691, essv12910532, essv12910254, essv12910418, essv12910127, essv12910696, essv12910490, essv12910623, essv12910236, essv12910389, essv12910572, essv12910309, essv12910296, essv12910610, essv12910136, essv12910240, essv12910417, essv12910198, essv12910528, essv12910210, essv12910377, essv12910266, essv12910579, essv12910263, essv12910644, essv12910320, essv12910329, essv12910675, essv12910649, essv12910520, essv12910300, essv12910289, essv12910476, essv12910207, essv12910349, essv12910260, essv12910424, essv12910176, essv12910246, essv12910448, essv12910298, essv12910292, essv12910228, essv12910313, essv12910134, essv12910170, essv12910566, essv12910447, essv12910646, essv12910255, essv12910496, essv12910208, essv12910149, essv12910667, essv12910502, essv12910642, essv12910183, essv12910235, essv12910147, essv12910511, essv12910437, essv12910551, essv12910238, essv12910241, essv12910332, essv12910327, essv12910687, essv12910177, essv12910229, essv12910578, essv12910160, essv12910337, essv12910312, essv12910328, essv12910621, essv12910498, essv12910366, essv12910191, essv12910162, essv12910531, essv12910184, essv12910469, essv12910606, essv12910492, essv12910355, essv12910615, essv12910489, essv12910391, essv12910544, essv12910390, essv12910321, essv12910460, essv12910493, essv12910508, essv12910126, essv12910666, essv12910359, essv12910341, essv12910243, essv12910643, essv12910218, essv12910257, essv12910568, essv12910423, essv12910269, essv12910514, essv12910665, essv12910482, essv12910425, essv12910521, essv12910302, essv12910261, essv12910504, essv12910201, essv12910549, essv12910434, essv12910647, essv12910436, essv12910473, essv12910474, essv12910375, essv12910547, essv12910669, essv12910250, essv12910593, essv12910428, essv12910656, essv12910562, essv12910148, essv12910223, essv12910384, essv12910632
SamplesHG00189, NA19028, HG01402, NA20529, HG00142, HG01443, HG04222, NA12414, HG04060, NA21099, HG01602, HG03517, NA21100, NA12843, NA11920, HG01326, HG02231, HG00257, NA20512, HG04076, HG03941, HG02691, HG02600, HG03616, NA21137, HG01518, NA20863, NA20359, NA12750, NA20806, HG04059, HG03603, HG01325, HG00122, HG03722, NA20589, HG01676, HG01167, NA20756, HG02595, HG00129, HG03913, NA18618, NA07048, HG03874, HG03234, HG01083, HG01063, HG00355, HG01365, HG00281, HG00130, NA20759, HG04183, HG03817, HG03910, NA20775, HG01519, NA20812, HG02634, HG01950, NA20412, NA21129, NA20757, HG01550, NA20755, HG03697, NA20800, HG01501, HG01200, HG03907, HG04039, NA20521, HG01684, NA20810, HG02253, NA19717, HG03711, HG03775, NA20875, HG02878, NA12234, HG01630, HG01102, NA20903, HG01762, NA21086, HG03951, HG02445, NA11893, HG02601, HG01334, HG02256, HG02635, HG02896, HG00126, HG01625, HG01107, HG03694, HG04200, HG01257, HG03720, NA20799, HG04216, HG03875, HG03949, NA19331, NA12873, NA20520, HG01620, HG03703, HG03729, HG01912, HG00267, HG03716, HG01631, HG01269, HG04171, HG02348, HG01756, HG03815, HG02643, HG01509, NA19431, NA11832, HG00096, HG00235, HG01441, NA19648, NA20853, HG01303, HG03965, HG03960, NA18592, HG01359, HG01052, HG01079, HG00100, HG02648, HG01188, NA11933, HG02150, HG01389, HG01374, HG00306, NA12045, HG03558, HG04094, NA12058, NA20808, HG00150, NA20507, NA12413, HG01500, HG01250, NA19746, HG01503, HG03706, HG03099, NA20861, NA20890, HG02325, HG03937, NA20900, HG00736, HG01354, NA20540, HG03762, HG01110, HG03594, NA12761, HG03868, NA12005, NA19651, HG02703, HG00120, NA19719, HG01527, HG04106, HG02885, HG01767, HG03624, HG03777, NA12889, NA12815, HG03744, NA20884, HG00338, NA20764, HG03750, HG00178, NA20587, NA21122, NA12748, HG00108, HG01699, HG01524, NA20818, HG01784, HG00188, HG02570, NA20787, HG04225, NA20524, HG02697, HG02582, HG02236, HG02090, NA20809, HG01612, HG02554, HG02307, NA21098, HG02497, NA20770, HG03824, HG00373, HG02494, HG01197, HG02604, HG01707, HG01504, HG01182, HG02283, HG01705, HG01679, NA20828, HG03991, HG02586, NA20542, HG01700, HG03567, HG02613, HG04219, NA20801, HG00119, NA11881, HG02759, NA12775, HG00742, HG00375, HG01362, HG01253, HG03689, NA07051, HG01623, HG01108, NA20803, HG00256, HG04003, HG03019, HG00125, NA21125, NA19818, HG01606, HG04015, NA20868, HG02238, NA20582, HG00288, NA21101, HG04209, HG00343, HG00372, HG00252, HG03445, HG01617, NA07056, HG03890, HG01097, HG01191, HG01583, NA20509, HG04210, NA20882, NA20761, NA12717, HG01412, HG00143, NA19703, HG02481, NA20508, HG01610, NA10851, NA12273, HG00358, NA20514, HG04158, HG03753, NA20878, HG01066, NA20752, NA20802, HG00181, NA20332, HG00115, HG00261, HG04156, HG01513, HG02792, HG00641, NA21135, HG04038, NA18597, HG03754, NA20774, HG01168, HG02301, NA20822, NA21108, HG00334, HG02603, NA11930, NA20539, HG03887, HG03619, NA12275, NA21109, HG00325, HG00232, HG00113, HG03888, HG03691, HG03814, HG00160, HG01048, HG01133, HG01709, NA20342, HG02780, HG01275, HG04075, HG03784, NA20753, HG00154, HG01171, HG00380, HG01670, HG02345, HG01669, HG03990, HG01789, NA20885, NA19984, HG04195, HG01882, HG00368, HG00132, NA20862, HG02887, HG01142, HG01345, HG01077, HG03805, HG01323, HG01675, HG00551, HG00239, HG03967, HG00284, NA11919, HG01536, HG00350, NA20581, HG03713, HG02787, HG02657, HG02309, HG03643, HG01593, HG02881, HG00140, NA19761, HG03046, HG01680, HG04159, HG02594, HG02660, HG00258, HG04006, HG01131, NA20815, HG03692, HG01685, HG02611, NA20790, NA20530, NA20792, NA20778, HG00237, NA20902, HG01113, NA20544, HG00339, HG02694, HG00259, NA21090, HG03977, NA20849, HG03733, NA19716, HG00310, NA20786, HG00280, HG01468, HG01479, HG02763, NA11892, HG01125, HG00171, NA12006, HG01927, HG01786, NA19346, HG00255, NA21091, HG01516, HG04198, HG04212, HG03773, HG03800, NA11830, HG02610, HG01521, NA20543, HG00231, NA20877, HG01438, NA11829, HG00361, HG00351, HG03237, HG00187, HG02433, HG03767, NA20531, NA21092, HG01970, NA20532, NA19020, HG04002, HG00640, HG00367, HG01686, NA19393, HG03667, HG01632, NA07357, HG03680, HG01140, HG03235, HG01682, HG01779, HG02491, NA20586, HG03976, NA12348, NA11992, HG03885, HG00346, NA12283, NA19771, HG01393, NA20910, HG02281, HG03803, HG04214, HG01455, NA19383, HG03968, HG01628, HG03595, HG01072, HG03195, HG03696, HG01673, HG00309, NA20811, HG03267, NA21114, NA20533, HG00264, NA21106, HG00290, HG03902, HG03844, HG03908, HG01248, HG02233, NA18934, HG00145, NA20505, NA12003, HG00190, HG03636, HG01088, HG00320, HG03428, HG01989, HG01119, HG03919, HG03124, HG01049, NA21116, HG03311, HG01615, HG01512, HG04054, NA12249, HG02649, HG01791, HG00321, HG00157, NA19740, NA12827, HG01890, HG01286, HG01596, NA20534, HG01530, HG02455, NA20773, NA20522, HG04188, HG03790, HG01190, HG00285, HG02682, HG00357, HG00278, HG02651, NA20785, NA12046, HG00308, NA19334, HG03488, NA20797, NA21126, NA06986, HG00269, HG04141, NA20357, HG00371, HG01770, HG01491, HG03789, NA21088, HG03049, NA20334, HG01254, HG03022, HG00123, HG01089, HG03916, HG02239, HG02679, HG00234, HG00131, HG01781, HG03882, HG01775, HG04056, HG02465, HG02425, NA20763, HG01566, HG01672, NA21104, HG03686, HG01695, HG00362, NA12776, HG01608
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614334
Frequency
Sample Size2504
Observed Gain0
Observed Loss573
Observed Complex0
Frequencyn/a


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