A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599104



Internal ID6639370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346901..191353870hg38UCSC Ensembl
Innerchr3:191346901..191353870hg38UCSC Ensembl
Outerchr3:191346505..191354248hg38UCSC Ensembl
chr3:191064690..191071659hg19UCSC Ensembl
Innerchr3:191064690..191071659hg19UCSC Ensembl
Outerchr3:191064294..191072037hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386970
hg196970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11271113, essv11271046, essv11271496, essv11271285, essv11271650, essv11271395, essv11271428, essv11271084, essv11271386, essv11271350, essv11271177, essv11271479, essv11271367, essv11271509, essv11271047, essv11271258, essv11271564, essv11271411, essv11271218, essv11271416, essv11271478, essv11271207, essv11271471, essv11271088, essv11271124, essv11271087, essv11271352, essv11271281, essv11271223, essv11271134, essv11271104, essv11271409, essv11271334, essv11271369, essv11271432, essv11271279, essv11271235, essv11271178, essv11271158, essv11271391, essv11271082, essv11271057, essv11271472, essv11271127, essv11271630, essv11271617, essv11271490, essv11271318, essv11271298, essv11271418, essv11271310, essv11271133, essv11271304, essv11271194, essv11271568, essv11271320, essv11271504, essv11271451, essv11271323, essv11271648, essv11271569, essv11271247, essv11271077, essv11271450, essv11271148, essv11271407, essv11271173, essv11271170, essv11271260, essv11271571, essv11271376, essv11271511, essv11271457, essv11271460, essv11271363, essv11271212, essv11271555, essv11271236, essv11271413, essv11271553, essv11271208, essv11271528, essv11271317, essv11271038, essv11271221, essv11271400, essv11271043, essv11271554, essv11271403, essv11271156, essv11271601, essv11271351, essv11271624, essv11271215, essv11271179, essv11271613, essv11271186, essv11271292, essv11271121, essv11271125, essv11271384, essv11271268, essv11271515, essv11271331, essv11271348, essv11271234, essv11271237, essv11271239, essv11271433, essv11271272, essv11271365, essv11271628, essv11271387, essv11271267, essv11271375, essv11271277, essv11271399, essv11271164, essv11271615, essv11271484, essv11271612, essv11271605, essv11271135, essv11271306, essv11271583, essv11271497, essv11271632, essv11271548, essv11271579, essv11271199, essv11271389, essv11271608, essv11271646, essv11271086, essv11271316, essv11271044, essv11271184, essv11271592, essv11271225, essv11271182, essv11271337, essv11271100, essv11271539, essv11271631, essv11271645, essv11271160, essv11271599, essv11271283, essv11271510, essv11271054, essv11271168, essv11271385, essv11271204, essv11271406, essv11271191, essv11271210, essv11271262, essv11271476, essv11271366, essv11271252, essv11271110, essv11271527, essv11271431, essv11271585, essv11271482, essv11271271, essv11271307, essv11271266, essv11271390, essv11271103, essv11271657, essv11271065, essv11271641, essv11271439, essv11271522, essv11271195, essv11271381, essv11271546, essv11271459, essv11271563, essv11271180, essv11271502, essv11271300, essv11271656, essv11271322, essv11271079, essv11271141, essv11271289, essv11271379, essv11271163, essv11271264, essv11271474, essv11271529, essv11271525, essv11271455, essv11271099, essv11271101, essv11271280, essv11271339, essv11271326, essv11271642, essv11271621, essv11271294, essv11271619, essv11271197, essv11271488, essv11271454, essv11271401, essv11271152, essv11271477, essv11271557, essv11271050, essv11271508, essv11271328, essv11271126, essv11271253, essv11271526, essv11271377, essv11271378, essv11271249, essv11271153, essv11271075, essv11271265, essv11271338, essv11271288, essv11271142, essv11271167, essv11271066, essv11271357, essv11271567, essv11271420, essv11271503, essv11271530, essv11271150, essv11271220, essv11271507, essv11271146, essv11271240, essv11271524, essv11271145, essv11271558, essv11271393, essv11271572, essv11271607, essv11271325, essv11271388, essv11271506, essv11271412, essv11271597, essv11271636, essv11271536, essv11271287, essv11271589, essv11271537, essv11271319, essv11271341, essv11271368, essv11271598, essv11271562, essv11271355, essv11271224, essv11271467, essv11271097, essv11271442, essv11271094, essv11271073, essv11271359, essv11271116, essv11271538, essv11271470, essv11271295, essv11271438, essv11271256, essv11271485, essv11271448, essv11271443, essv11271217, essv11271045, essv11271500, essv11271098, essv11271228, essv11271227, essv11271147, essv11271061, essv11271120, essv11271456, essv11271137, essv11271129, essv11271181, essv11271282, essv11271270, essv11271200, essv11271159, essv11271373, essv11271552, essv11271582, essv11271109, essv11271174, essv11271421, essv11271278, essv11271566, essv11271102, essv11271273, essv11271230, essv11271427, essv11271321, essv11271162, essv11271463, essv11271643, essv11271441, essv11271297, essv11271245, essv11271514, essv11271436, essv11271614, essv11271422, essv11271114, essv11271618, essv11271354, essv11271577, essv11271652, essv11271540, essv11271312, essv11271115, essv11271248, essv11271206, essv11271345, essv11271302, essv11271489, essv11271382, essv11271493, essv11271193, essv11271336, essv11271425, essv11271261, essv11271655, essv11271370, essv11271189, essv11271405, essv11271056, essv11271219, essv11271080, essv11271429, essv11271157, essv11271415, essv11271226, essv11271587, essv11271335, essv11271259, essv11271078, essv11271609, essv11271214, essv11271290, essv11271590, essv11271593, essv11271291, essv11271140, essv11271654, essv11271232, essv11271053, essv11271603, essv11271062, essv11271551, essv11271586, essv11271437, essv11271131, essv11271343, essv11271203, essv11271545, essv11271576, essv11271542, essv11271072, essv11271083, essv11271461, essv11271198, essv11271574, essv11271347, essv11271595, essv11271627, essv11271149, essv11271462, essv11271629, essv11271640, essv11271481, essv11271151, essv11271106, essv11271107, essv11271594, essv11271626, essv11271187, essv11271332, essv11271591, essv11271154, essv11271161, essv11271305, essv11271095, essv11271394, essv11271257, essv11271081, essv11271340, essv11271222, essv11271584, essv11271453, essv11271188, essv11271132, essv11271074, essv11271242, essv11271647, essv11271130, essv11271071, essv11271480, essv11271547, essv11271309, essv11271452, essv11271635, essv11271372, essv11271263, essv11271380, essv11271606, essv11271549, essv11271620, essv11271414, essv11271308, essv11271251, essv11271090, essv11271055, essv11271096, essv11271275, essv11271241, essv11271616, essv11271112, essv11271051, essv11271311, essv11271505, essv11271364, essv11271105, essv11271447, essv11271039, essv11271521, essv11271483, essv11271487, essv11271202, essv11271118, essv11271440, essv11271229, essv11271059, essv11271600, essv11271169, essv11271430, essv11271516, essv11271069, essv11271383, essv11271076, essv11271176, essv11271085, essv11271255, essv11271573, essv11271397, essv11271360, essv11271565, essv11271498, essv11271458, essv11271512, essv11271361, essv11271092, essv11271155, essv11271201, essv11271464, essv11271604, essv11271117, essv11271426, essv11271634, essv11271513, essv11271602, essv11271469, essv11271060, essv11271520, essv11271449, essv11271111, essv11271444, essv11271128, essv11271190, essv11271581, essv11271468, essv11271274, essv11271276, essv11271633, essv11271639, essv11271610, essv11271570, essv11271491, essv11271475, essv11271185, essv11271301, essv11271136, essv11271346, essv11271139, essv11271550, essv11271344, essv11271473, essv11271534, essv11271324, essv11271299, essv11271172, essv11271315, essv11271544, essv11271213, essv11271492, essv11271466, essv11271353, essv11271119, essv11271244, essv11271535, essv11271362, essv11271175, essv11271041, essv11271067, essv11271233, essv11271040, essv11271036, essv11271374, essv11271517, essv11271192, essv11271623, essv11271533, essv11271410, essv11271166, essv11271532, essv11271486, essv11271580, essv11271638, essv11271637, essv11271519, essv11271327, essv11271611, essv11271205, essv11271523, essv11271216, essv11271286, essv11271518, essv11271501, essv11271494, essv11271649, essv11271559, essv11271349, essv11271070, essv11271068, essv11271588, essv11271495, essv11271313, essv11271465, essv11271408, essv11271196, essv11271578, essv11271356, essv11271560, essv11271445, essv11271108, essv11271446, essv11271424, essv11271333, essv11271250, essv11271596, essv11271392, essv11271330, essv11271398, essv11271651, essv11271269, essv11271284, essv11271622, essv11271541, essv11271396, essv11271419, essv11271143, essv11271371, essv11271329, essv11271303, essv11271165, essv11271314, essv11271122, essv11271625, essv11271556, essv11271042, essv11271091, essv11271499, essv11271342, essv11271231, essv11271048, essv11271435, essv11271093, essv11271296, essv11271064, essv11271246, essv11271402, essv11271052, essv11271423, essv11271063, essv11271644, essv11271209, essv11271404, essv11271049, essv11271183, essv11271434, essv11271089, essv11271238, essv11271138, essv11271037, essv11271243, essv11271653, essv11271575, essv11271293, essv11271171, essv11271123, essv11271543, essv11271211, essv11271058, essv11271561, essv11271358, essv11271417, essv11271254, essv11271531, essv11271144
SamplesHG01485, HG00189, NA20339, HG03593, NA20529, HG00142, HG01443, NA19399, NA12414, HG04060, HG03687, HG03175, HG01326, NA11931, HG03717, HG00257, HG02419, NA20512, NA12751, HG03941, HG02691, HG01486, NA19684, NA19377, HG03193, HG01518, NA19920, NA20359, NA12750, NA20806, NA20894, HG00337, NA12813, NA19446, HG00138, HG03645, HG01325, HG00356, NA20798, HG01177, HG04206, HG02840, HG01766, HG02595, NA20911, NA20795, HG02756, HG00129, HG03913, HG03736, NA18916, HG01063, HG00355, HG04070, HG01365, HG00243, HG03917, HG00158, HG00281, HG00139, HG00130, NA20759, NA19720, NA20775, HG01519, NA20812, NA18868, NA19024, HG01284, NA19172, HG01973, NA19036, NA19239, NA19025, HG00326, NA20757, HG03585, NA18867, HG01967, NA20515, HG02479, HG01164, NA12777, HG03697, NA20535, NA12760, NA12489, HG00266, HG03786, HG01684, HG03928, HG01879, NA19043, HG00344, HG02728, NA20875, HG01630, HG01047, HG03301, HG01762, NA20901, HG03951, HG00331, NA11840, NA19750, HG01130, HG02724, HG01334, HG03752, NA12778, HG01697, HG01988, HG01625, HG01107, HG01257, HG03743, NA19729, NA19652, HG03848, HG00336, NA21144, NA19434, HG03539, HG03708, NA20870, NA19331, NA12873, NA20520, HG02464, HG02580, HG01342, HG01785, NA19779, HG03849, HG03279, HG00267, HG03716, HG02768, HG04098, HG01269, NA20826, HG00274, NA20503, HG02947, HG01920, HG01756, HG02851, HG03985, HG01509, HG01437, HG02760, HG00096, HG03812, HG02614, HG02339, HG01746, HG03559, HG00121, NA20853, HG03652, NA19794, HG02272, HG01961, HG02973, HG01052, HG04229, HG01537, HG01079, HG00100, NA18881, NA19734, NA20813, HG01305, NA19819, NA12004, HG03772, HG04018, HG00150, NA20507, NA19190, NA12400, HG04001, HG02285, NA12341, HG01250, HG01341, HG00251, HG00109, HG03499, HG01064, HG02541, HG02325, HG03937, HG00330, HG01945, NA19023, NA20540, NA12287, NA20513, HG03762, HG01110, HG03793, HG01134, NA12282, NA19651, HG00106, HG01527, HG02885, HG03624, NA19471, NA12815, HG03995, NA19159, HG03352, HG00182, HG03744, NA19189, HG00637, HG00338, NA12828, HG03832, HG03884, NA12748, HG00108, HG01603, HG01784, HG01136, HG00188, NA19657, HG01360, HG00183, HG00176, NA20787, HG04225, NA20524, NA12342, HG02236, NA20536, NA19327, HG01612, HG02450, HG04035, NA20770, HG02555, HG01777, HG01392, HG03563, HG01161, HG01414, NA19118, HG00373, HG02494, HG00110, HG03078, HG02008, HG01707, HG01383, HG01921, HG04189, NA20282, HG02725, HG01403, NA20828, NA20542, HG03109, HG03940, HG01990, NA21143, HG01363, HG03866, HG03028, HG00119, NA11881, HG02501, HG00742, HG01362, HG01253, NA07051, HG02314, HG03127, HG01951, HG01205, HG00319, NA20803, HG00256, HG03557, HG02814, HG04003, HG00125, NA19759, NA19323, HG03442, NA19438, HG02238, HG00378, HG01783, HG00288, NA21101, HG02676, NA20807, HG03445, HG01617, HG01377, HG02861, HG01464, HG03611, HG01097, HG01583, NA20509, HG01747, NA19394, HG02574, NA20882, HG02658, NA12717, HG00143, HG02002, NA20766, HG01624, HG01610, HG03052, HG00242, NA10851, NA12273, NA20783, NA20514, NA20878, HG03300, HG00315, HG00244, HG00181, NA19355, HG03926, HG00737, HG01947, NA19443, HG00097, NA20771, HG03009, NA20814, NA21135, HG00272, HG01702, HG01351, HG03604, HG04182, HG02301, NA07347, HG03578, NA12275, HG01069, HG01080, HG00148, NA21109, NA12156, HG00232, NA12044, NA11994, HG04020, NA19722, NA20889, HG00118, HG01198, HG01133, HG01709, HG01121, HG01626, HG01275, NA20127, HG00365, HG01124, HG00349, HG00154, HG01171, HG00282, HG01670, HG00332, HG00245, HG02678, HG04195, HG01882, HG00368, HG01979, HG02775, HG01142, HG01941, HG00275, HG01077, HG03805, HG02508, HG01323, HG03027, HG01675, HG01607, HG04235, HG00324, HG00284, NA11919, HG03730, HG01536, NA20581, HG03631, HG02309, HG03643, HG02881, HG01101, NA19752, HG01497, HG03971, NA19761, HG03914, HG03046, NA12144, HG04159, HG00246, HG00240, NA12546, NA12043, HG01148, HG00155, NA21117, NA19309, HG01980, NA19019, HG01131, HG02220, NA12272, HG01551, HG00734, HG02304, HG01396, HG02611, NA21123, NA20362, NA20778, HG02274, NA19324, NA19783, HG01489, HG00339, NA18501, NA06994, HG03112, HG03066, HG03063, NA21133, NA20510, NA21093, HG00310, NA11843, HG01468, HG02774, HG01479, NA19030, HG01431, NA11892, NA19312, HG00171, NA12154, NA20908, HG01786, NA20754, HG00553, NA19676, HG01516, NA19141, HG03857, HG02610, HG02652, HG01356, HG01438, NA11829, HG00361, HG01773, NA19914, HG00187, NA19332, HG01280, NA20532, HG00640, HG00318, NA19795, HG01465, HG03668, HG03963, HG03100, HG01944, HG01971, HG03667, HG03297, HG00177, HG03836, NA07357, HG01140, HG00327, NA19792, NA20796, HG01070, NA20850, HG02491, HG02485, NA20586, NA19771, HG00369, HG01510, HG01982, HG01242, HG02489, NA20910, HG01455, HG03897, HG01628, HG01072, HG01281, NA19731, HG01369, HG01308, HG03696, HG01673, HG01405, HG04238, HG01440, HG01932, HG00159, NA18864, HG03058, NA20533, HG04029, HG03048, HG00739, NA11831, HG00133, HG01183, HG01139, HG00290, HG01248, HG01247, HG01104, NA20505, NA12003, HG01162, HG02322, HG00320, NA20506, HG01119, HG03919, HG01049, HG03021, HG01092, HG01615, HG01311, HG00273, NA19774, NA19449, HG03382, NA11894, NA18856, NA12249, NA19740, NA12827, HG03634, HG00276, HG03354, HG03774, HG01204, HG01992, NA21087, HG01444, NA20773, NA20522, HG03778, NA12716, HG04188, HG01190, HG00285, HG02223, NA19735, HG00366, HG02682, HG00357, NA20804, HG00278, HG02651, HG01494, NA19439, NA19467, NA20516, HG04090, NA21126, HG03108, HG00269, HG04141, HG00107, HG01395, HG00111, HG01491, HG03896, HG02230, HG01556, HG02699, NA20334, HG01254, HG01089, HG03916, HG03684, HG03615, HG02239, HG02679, HG02052, HG02465, HG02425, NA20763, NA18522, HG01112, HG03698, HG03129, HG01578, HG01695, HG01061, HG00362, NA12776, HG03886
Known GenesCCDC50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599104
Frequency
Sample Size2504
Observed Gain0
Observed Loss622
Observed Complex0
Frequencyn/a


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