A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629325



Internal ID7016147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42304024..42306286hg38UCSC Ensembl
Innerchr12:42304025..42306286hg38UCSC Ensembl
Outerchr12:42304024..42306287hg38UCSC Ensembl
chr12:42697826..42700088hg19UCSC Ensembl
Innerchr12:42697827..42700088hg19UCSC Ensembl
Outerchr12:42697826..42700089hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382263
hg192263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14459458, essv14459185, essv14459373, essv14459457, essv14459049, essv14459353, essv14459101, essv14459420, essv14459065, essv14459297, essv14459316, essv14459097, essv14459314, essv14459133, essv14459264, essv14459216, essv14459448, essv14459200, essv14459422, essv14459218, essv14459149, essv14459295, essv14459261, essv14459102, essv14459279, essv14459522, essv14459529, essv14459418, essv14459349, essv14459039, essv14459215, essv14459502, essv14459227, essv14459482, essv14459088, essv14459249, essv14459128, essv14459062, essv14459343, essv14459342, essv14459070, essv14459355, essv14459384, essv14459412, essv14459345, essv14459235, essv14459041, essv14459389, essv14459244, essv14459485, essv14459401, essv14459282, essv14459442, essv14459507, essv14459508, essv14459050, essv14459510, essv14459233, essv14459231, essv14459363, essv14459234, essv14459386, essv14459104, essv14459120, essv14459299, essv14459089, essv14459221, essv14459487, essv14459253, essv14459118, essv14459273, essv14459108, essv14459298, essv14459534, essv14459246, essv14459247, essv14459178, essv14459063, essv14459269, essv14459067, essv14459496, essv14459369, essv14459352, essv14459073, essv14459223, essv14459433, essv14459446, essv14459093, essv14459500, essv14459300, essv14459064, essv14459058, essv14459057, essv14459390, essv14459312, essv14459307, essv14459267, essv14459428, essv14459409, essv14459259, essv14459188, essv14459514, essv14459306, essv14459441, essv14459173, essv14459517, essv14459112, essv14459452, essv14459262, essv14459460, essv14459071, essv14459515, essv14459346, essv14459425, essv14459194, essv14459328, essv14459146, essv14459122, essv14459504, essv14459084, essv14459365, essv14459196, essv14459520, essv14459426, essv14459393, essv14459535, essv14459531, essv14459475, essv14459486, essv14459313, essv14459435, essv14459414, essv14459274, essv14459336, essv14459103, essv14459398, essv14459330, essv14459174, essv14459251, essv14459379, essv14459117, essv14459459, essv14459466, essv14459431, essv14459539, essv14459263, essv14459199, essv14459145, essv14459490, essv14459136, essv14459474, essv14459176, essv14459175, essv14459111, essv14459286, essv14459075, essv14459198, essv14459357, essv14459157, essv14459454, essv14459220, essv14459096, essv14459289, essv14459250, essv14459081, essv14459503, essv14459351, essv14459066, essv14459144, essv14459407, essv14459206, essv14459129, essv14459467, essv14459277, essv14459383, essv14459524, essv14459374, essv14459061, essv14459116, essv14459069, essv14459123, essv14459169, essv14459159, essv14459325, essv14459137, essv14459180, essv14459419, essv14459492, essv14459152, essv14459511, essv14459367, essv14459219, essv14459350, essv14459170, essv14459099, essv14459140, essv14459105, essv14459040, essv14459270, essv14459143, essv14459094, essv14459083, essv14459293, essv14459082, essv14459394, essv14459476, essv14459256, essv14459189, essv14459150, essv14459472, essv14459211, essv14459168, essv14459290, essv14459151, essv14459160, essv14459523, essv14459047, essv14459356, essv14459462, essv14459166, essv14459183, essv14459179, essv14459526, essv14459483, essv14459354, essv14459110, essv14459469, essv14459224, essv14459402, essv14459239, essv14459370, essv14459364, essv14459205, essv14459368, essv14459195, essv14459109, essv14459320, essv14459281, essv14459506, essv14459317, essv14459516, essv14459255, essv14459527, essv14459258, essv14459048, essv14459493, essv14459237, essv14459536, essv14459283, essv14459436, essv14459059, essv14459107, essv14459100, essv14459410, essv14459391, essv14459287, essv14459438, essv14459197, essv14459382, essv14459324, essv14459445, essv14459304, essv14459533, essv14459172, essv14459301, essv14459053, essv14459434, essv14459361, essv14459177, essv14459340, essv14459268, essv14459245, essv14459164, essv14459091, essv14459525, essv14459272, essv14459182, essv14459236, essv14459046, essv14459332, essv14459125, essv14459318, essv14459230, essv14459432, essv14459331, essv14459512, essv14459296, essv14459360, essv14459309, essv14459055, essv14459077, essv14459464, essv14459291, essv14459479, essv14459453, essv14459494, essv14459377, essv14459521, essv14459403, essv14459181, essv14459214, essv14459385, essv14459347, essv14459519, essv14459141, essv14459468, essv14459530, essv14459513, essv14459497, essv14459080, essv14459252, essv14459427, essv14459113, essv14459440, essv14459375, essv14459538, essv14459315, essv14459106, essv14459491, essv14459280, essv14459388, essv14459305, essv14459470, essv14459421, essv14459240, essv14459130, essv14459212, essv14459366, essv14459132, essv14459302, essv14459288, essv14459163, essv14459087, essv14459054, essv14459051, essv14459276, essv14459207, essv14459265, essv14459499, essv14459072, essv14459372, essv14459505, essv14459217, essv14459127, essv14459114, essv14459451, essv14459477, essv14459131, essv14459142, essv14459341, essv14459310, essv14459191, essv14459225, essv14459429, essv14459210, essv14459437, essv14459134, essv14459480, essv14459450, essv14459138, essv14459455, essv14459192, essv14459098, essv14459348, essv14459213, essv14459095, essv14459392, essv14459043, essv14459060, essv14459266, essv14459271, essv14459334, essv14459456, essv14459396, essv14459229, essv14459308, essv14459242, essv14459449, essv14459303, essv14459119, essv14459532, essv14459074, essv14459186, essv14459417, essv14459423, essv14459537, essv14459400, essv14459284, essv14459498, essv14459193, essv14459243, essv14459085, essv14459076, essv14459162, essv14459501, essv14459471, essv14459424, essv14459238, essv14459322, essv14459399, essv14459202, essv14459326, essv14459311, essv14459226, essv14459443, essv14459439, essv14459187, essv14459339, essv14459333, essv14459335, essv14459156, essv14459124, essv14459495, essv14459228, essv14459411, essv14459184, essv14459068, essv14459473, essv14459405, essv14459232, essv14459044, essv14459329, essv14459222, essv14459397, essv14459408, essv14459038, essv14459381, essv14459204, essv14459257, essv14459155, essv14459481, essv14459488, essv14459344, essv14459319, essv14459154, essv14459201, essv14459395, essv14459294, essv14459380, essv14459167, essv14459444, essv14459115, essv14459148, essv14459509, essv14459153, essv14459415, essv14459275, essv14459126, essv14459463, essv14459135, essv14459465, essv14459323, essv14459090, essv14459086, essv14459158, essv14459337, essv14459139, essv14459376, essv14459165, essv14459079, essv14459528, essv14459208, essv14459209, essv14459387, essv14459078, essv14459171, essv14459092, essv14459254, essv14459241, essv14459430, essv14459461, essv14459489, essv14459056, essv14459278, essv14459358, essv14459362, essv14459338, essv14459413, essv14459147, essv14459404, essv14459359, essv14459292, essv14459260, essv14459378, essv14459321, essv14459447, essv14459203, essv14459121, essv14459045, essv14459327, essv14459248, essv14459478, essv14459416, essv14459161, essv14459052, essv14459371, essv14459406, essv14459042, essv14459190, essv14459285, essv14459518, essv14459484
SamplesHG01485, HG01850, HG00442, NA19058, NA20891, HG00608, HG03717, HG03241, HG02836, HG04076, HG02691, HG02050, NA20864, NA19684, HG02888, HG02154, HG01704, HG03679, HG03385, NA19315, NA20798, HG01177, HG02156, HG01676, NA20795, HG02521, NA18558, HG02645, HG02299, HG03978, HG03040, HG00537, NA19079, HG00158, HG02131, HG00281, HG03817, HG02634, NA19238, HG01849, HG03947, HG02588, HG03380, HG00406, HG03585, NA18867, HG02409, NA20515, HG01851, HG02134, HG02879, HG00137, NA18605, HG03685, HG03907, HG01857, HG02380, HG00657, NA19184, HG02084, HG02728, HG02014, HG02878, HG03823, HG03829, NA18879, HG00690, HG00404, NA21112, HG03446, NA19452, HG03006, NA18523, HG00126, NA18593, HG01625, HG01107, HG03934, NA20799, HG00611, HG03598, HG01597, NA18517, HG04026, NA19434, HG03875, NA18628, HG02355, NA20870, HG03458, HG03117, HG01874, NA18865, NA19428, HG02464, NA19360, HG02188, HG03729, NA19328, NA19117, HG01765, HG00513, NA18631, HG02401, HG02367, HG01912, HG01804, HG03313, HG00267, HG02116, NA18609, HG03716, HG03351, HG00112, NA19770, HG02182, HG04171, HG01794, HG01920, HG01756, HG00628, HG01509, HG00581, HG01507, HG03690, HG03812, HG02339, NA19700, HG01054, NA19466, HG01961, HG02702, HG04194, HG02035, HG03057, HG01188, HG03589, HG02852, HG02275, NA18877, NA19819, HG02277, HG03772, HG03950, HG01924, NA19076, HG02151, NA18489, HG01064, HG02087, NA19723, HG04144, NA19916, HG00634, NA19131, HG01816, HG00736, HG00610, HG03105, HG02374, NA19023, HG03594, HG00590, HG03851, HG02703, HG03556, HG00683, NA19719, HG01527, HG02885, NA18617, NA19159, NA19026, HG03744, HG02138, HG03055, HG03583, HG00178, HG03832, HG02882, NA18973, HG03709, HG00543, HG02402, HG02136, HG03644, HG02090, HG03760, NA20536, NA18991, HG02076, HG00475, HG02554, HG00584, HG02307, HG00500, NA18976, HG02497, HG02976, HG02789, HG01094, HG01161, HG00844, HG02494, NA18499, HG03397, HG02604, HG01707, NA19031, NA18946, HG03854, HG01705, HG01679, NA18536, HG02586, HG02408, HG02399, HG01990, HG03567, HG01363, HG03028, HG02282, NA20801, HG02983, HG02064, HG00375, HG01362, HG01253, HG00136, HG01205, NA19310, HG03419, HG02181, HG01801, NA19818, NA19143, HG04015, HG03442, HG01917, NA19438, HG02238, NA18987, HG01783, HG02396, HG03258, HG03998, HG02676, HG02410, NA18984, HG00472, NA19146, HG04161, HG02386, NA12717, HG02944, HG03484, NA19909, HG01610, NA19204, NA18861, NA12273, NA18565, HG03111, NA20514, HG01815, HG00766, HG02029, HG02078, NA19350, HG01802, NA20332, HG00737, HG00449, NA20517, HG02589, NA19443, NA12399, HG04156, NA18627, HG01513, HG02792, NA18940, HG02185, HG03943, HG00599, HG02146, NA18567, NA18571, NA21108, HG03224, HG02733, HG01840, HG02278, NA20539, NA20518, NA11994, HG00534, NA18748, NA18966, HG02260, HG01133, HG01058, NA20355, HG01709, NA20342, HG02623, NA20127, NA18645, HG02716, HG02047, HG03343, HG02442, HG00154, HG03363, HG01670, HG02075, HG00332, HG02345, HG01789, NA19086, HG02678, NA19984, NA20862, HG02887, HG00583, HG03575, HG03081, HG01323, NA18534, HG00551, HG03472, NA18573, NA11919, HG00651, HG00531, NA18912, HG02881, NA19752, NA18555, HG01474, HG04159, HG00240, NA12546, HG01956, NA18541, NA19017, HG01148, NA19375, NA19003, HG01812, HG02089, HG00265, NA19147, HG00625, NA20276, HG01551, NA19090, HG02611, HG01375, HG02982, HG02274, NA19324, HG01113, NA20544, HG02317, NA18610, HG02371, NA06994, HG04140, HG03642, NA21090, HG01868, NA21102, HG01302, NA18636, NA19185, HG01600, HG03872, HG01479, HG02763, NA19430, NA18957, HG02778, NA18968, NA18740, HG01805, NA19346, NA19676, HG04198, HG02890, HG03800, HG02610, HG01098, HG00536, HG01860, HG01855, HG02337, HG01970, HG02870, HG01686, NA20805, HG01971, HG02271, HG03792, HG00879, NA18870, HG03944, HG02023, HG03199, HG03074, HG00127, HG02153, HG02810, NA20850, HG03976, HG03873, NA18619, HG03885, NA19771, NA21103, HG02922, HG03803, HG03897, NA19383, NA18874, HG02512, HG02067, NA20819, HG02573, HG02461, NA19385, HG00422, NA18986, NA19901, NA18864, HG02180, NA19456, NA18640, NA19200, HG03270, HG03902, HG02977, HG01248, HG01841, HG00596, HG01595, HG02513, HG01515, HG00436, HG00533, HG02390, NA18637, NA20767, HG02537, HG02757, NA18757, HG01073, NA20299, HG00956, HG03476, NA19113, HG00117, HG00525, HG00157, HG03634, NA19338, HG02184, NA18608, HG02813, NA21113, HG02807, HG01190, NA18961, HG02049, HG02696, HG01894, HG01915, NA19435, HG01958, NA19380, HG01977, HG01974, NA07037, HG03108, NA20357, HG02398, HG01770, HG02974, HG02970, NA18994, HG02679, NA19213, NA20528, HG02028, HG01775, NA18488, HG04056, HG02465, HG02425, HG01566, NA18522, HG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629325
Frequency
Sample Size2504
Observed Gain0
Observed Loss502
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer