A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595362



Internal ID6635636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14136652..14137345hg38UCSC Ensembl
Innerchr3:14136654..14137343hg38UCSC Ensembl
Outerchr3:14136650..14137347hg38UCSC Ensembl
chr3:14178152..14178845hg19UCSC Ensembl
Innerchr3:14178154..14178843hg19UCSC Ensembl
Outerchr3:14178150..14178847hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10932116, essv10932255, essv10932245, essv10932474, essv10932154, essv10932177, essv10932340, essv10932394, essv10932231, essv10932436, essv10932488, essv10932307, essv10932376, essv10932438, essv10932097, essv10932432, essv10932355, essv10932243, essv10932397, essv10932479, essv10932184, essv10932178, essv10932361, essv10932445, essv10932494, essv10932405, essv10932094, essv10932104, essv10932039, essv10932174, essv10932300, essv10932389, essv10932466, essv10932274, essv10932320, essv10932072, essv10932352, essv10932378, essv10932426, essv10932054, essv10932103, essv10932081, essv10932156, essv10932091, essv10932141, essv10932146, essv10932344, essv10932301, essv10932210, essv10932315, essv10932041, essv10932096, essv10932372, essv10932311, essv10932188, essv10932385, essv10932429, essv10932074, essv10932145, essv10932369, essv10932277, essv10932292, essv10932223, essv10932232, essv10932341, essv10932465, essv10932492, essv10932353, essv10932294, essv10932113, essv10932252, essv10932095, essv10932142, essv10932368, essv10932133, essv10932064, essv10932318, essv10932403, essv10932447, essv10932493, essv10932227, essv10932455, essv10932501, essv10932347, essv10932126, essv10932160, essv10932251, essv10932310, essv10932088, essv10932125, essv10932230, essv10932222, essv10932322, essv10932427, essv10932224, essv10932080, essv10932165, essv10932208, essv10932099, essv10932185, essv10932349, essv10932159, essv10932470, essv10932446, essv10932220, essv10932359, essv10932459, essv10932062, essv10932472, essv10932490, essv10932342, essv10932071, essv10932476, essv10932460, essv10932256, essv10932276, essv10932120, essv10932181, essv10932050, essv10932387, essv10932418, essv10932045, essv10932163, essv10932060, essv10932317, essv10932410, essv10932482, essv10932140, essv10932452, essv10932485, essv10932380, essv10932272, essv10932484, essv10932216, essv10932042, essv10932278, essv10932409, essv10932305, essv10932109, essv10932379, essv10932421, essv10932238, essv10932083, essv10932390, essv10932462, essv10932211, essv10932398, essv10932392, essv10932425, essv10932061, essv10932122, essv10932217, essv10932285, essv10932343, essv10932480, essv10932249, essv10932059, essv10932110, essv10932283, essv10932153, essv10932386, essv10932287, essv10932440, essv10932180, essv10932306, essv10932098, essv10932151, essv10932169, essv10932187, essv10932127, essv10932215, essv10932267, essv10932375, essv10932298, essv10932339, essv10932152, essv10932435, essv10932244, essv10932092, essv10932263, essv10932299, essv10932453, essv10932491, essv10932266, essv10932076, essv10932373, essv10932248, essv10932150, essv10932203, essv10932329, essv10932505, essv10932414, essv10932147, essv10932503, essv10932115, essv10932400, essv10932346, essv10932101, essv10932206, essv10932100, essv10932199, essv10932463, essv10932478, essv10932350, essv10932282, essv10932334, essv10932111, essv10932428, essv10932170, essv10932363, essv10932040, essv10932327, essv10932395, essv10932291, essv10932242, essv10932335, essv10932412, essv10932162, essv10932333, essv10932157, essv10932275, essv10932439, essv10932128, essv10932401, essv10932448, essv10932258, essv10932330, essv10932348, essv10932416, essv10932489, essv10932047, essv10932168, essv10932190, essv10932234, essv10932200, essv10932257, essv10932043, essv10932254, essv10932261, essv10932354, essv10932290, essv10932124, essv10932504, essv10932068, essv10932089, essv10932136, essv10932048, essv10932086, essv10932114, essv10932260, essv10932119, essv10932268, essv10932383, essv10932270, essv10932250, essv10932431, essv10932500, essv10932195, essv10932207, essv10932108, essv10932158, essv10932196, essv10932336, essv10932437, essv10932477, essv10932498, essv10932051, essv10932214, essv10932265, essv10932085, essv10932313, essv10932233, essv10932279, essv10932367, essv10932137, essv10932173, essv10932264, essv10932079, essv10932183, essv10932332, essv10932067, essv10932186, essv10932084, essv10932134, essv10932138, essv10932053, essv10932239, essv10932365, essv10932381, essv10932382, essv10932161, essv10932070, essv10932228, essv10932312, essv10932262, essv10932182, essv10932289, essv10932066, essv10932326, essv10932456, essv10932269, essv10932469, essv10932481, essv10932303, essv10932296, essv10932402, essv10932486, essv10932164, essv10932293, essv10932419, essv10932121, essv10932090, essv10932371, essv10932411, essv10932130, essv10932201, essv10932144, essv10932143, essv10932237, essv10932496, essv10932468, essv10932357, essv10932118, essv10932337, essv10932259, essv10932052, essv10932202, essv10932441, essv10932319, essv10932422, essv10932175, essv10932218, essv10932295, essv10932148, essv10932316, essv10932056, essv10932229, essv10932069, essv10932049, essv10932129, essv10932093, essv10932171, essv10932273, essv10932388, essv10932075, essv10932167, essv10932286, essv10932176, essv10932246, essv10932442, essv10932105, essv10932213, essv10932253, essv10932077, essv10932321, essv10932328, essv10932281, essv10932483, essv10932364, essv10932197, essv10932356, essv10932495, essv10932209, essv10932191, essv10932149, essv10932407, essv10932323, essv10932443, essv10932221, essv10932225, essv10932331, essv10932464, essv10932502, essv10932325, essv10932423, essv10932450, essv10932499, essv10932106, essv10932366, essv10932497, essv10932370, essv10932226, essv10932236, essv10932404, essv10932065, essv10932302, essv10932194, essv10932360, essv10932046, essv10932309, essv10932358, essv10932087, essv10932107, essv10932198, essv10932192, essv10932271, essv10932351, essv10932102, essv10932241, essv10932374, essv10932082, essv10932304, essv10932475, essv10932324, essv10932297, essv10932172, essv10932280, essv10932430, essv10932078, essv10932063, essv10932338, essv10932444, essv10932166, essv10932413, essv10932396, essv10932155, essv10932135, essv10932384, essv10932308, essv10932415, essv10932219, essv10932406, essv10932058, essv10932408, essv10932189, essv10932454, essv10932057, essv10932193, essv10932467, essv10932117, essv10932139, essv10932179, essv10932420, essv10932471, essv10932487, essv10932457, essv10932362, essv10932391, essv10932314, essv10932473, essv10932205, essv10932132, essv10932458, essv10932131, essv10932240, essv10932073, essv10932235, essv10932449, essv10932055, essv10932399, essv10932434, essv10932204, essv10932212, essv10932377, essv10932288, essv10932345, essv10932123, essv10932451, essv10932044, essv10932433, essv10932247, essv10932461, essv10932424, essv10932112, essv10932284, essv10932393, essv10932417
SamplesNA18642, HG01357, HG00613, HG03135, HG00864, HG02107, NA19312, HG03121, HG00537, HG02882, NA18605, HG02810, NA19214, HG02675, NA18520, NA18595, HG02371, NA18951, NA18534, HG02298, NA12286, HG00956, NA19437, HG00500, HG03478, NA19209, HG00464, HG02549, HG02334, HG01885, HG00632, HG02601, NA20346, HG02255, HG02419, NA19435, NA18603, HG02139, NA20296, HG01197, HG03452, NA18516, HG00614, NA19334, HG02153, NA19788, HG01816, NA18953, NA19795, HG02946, HG03311, NA18865, HG02508, HG03111, HG01350, NA18541, HG03432, HG03458, NA19144, HG00683, HG00698, HG02676, HG03103, HG00581, HG01920, HG02322, NA18963, HG00404, HG04176, HG01142, HG02685, HG03796, HG02150, HG00699, NA18557, NA18745, NA19472, NA18625, NA18943, HG01171, HG02133, HG02973, NA20340, HG00592, HG01597, HG03817, NA19077, HG02259, HG02402, HG02312, HG01550, HG02390, NA18979, NA19085, NA18967, NA19314, HG03451, NA19735, HG00593, HG03484, NA19390, HG02394, NA19309, HG01378, NA18536, NA19197, NA19107, NA18641, HG00692, HG03439, HG01124, HG02090, NA18592, HG02385, HG02643, NA19429, HG00533, HG01684, HG02348, HG02078, HG01879, NA18637, HG01867, HG00634, NA18593, HG03079, HG01596, HG01747, NA19082, HG01986, HG00844, HG01974, HG03169, NA19786, HG01097, HG01465, NA19129, NA19771, HG02449, HG04141, NA19372, HG02382, NA18633, HG00653, HG02285, HG01766, HG02922, NA18510, HG00672, HG01170, HG02031, NA18961, HG02266, HG01080, HG03788, HG02087, HG00524, HG03073, HG02852, NA21100, HG00458, HG00599, HG01805, HG02307, HG02084, HG02536, HG02586, HG02299, HG02190, HG00674, NA18940, HG01565, HG03028, NA18619, HG00445, HG01137, HG00717, HG01801, NA19009, HG01256, HG01799, HG03267, HG03367, NA21087, HG01893, HG02035, NA20274, NA20289, HG03078, NA18544, NA18971, HG02144, NA19818, NA18577, HG00654, HG02561, NA18614, HG01412, HG02252, HG00530, HG01802, HG01992, NA18533, NA18864, NA19740, HG03240, NA18946, NA19064, HG02408, HG02891, HG03343, HG02464, HG03025, HG03369, NA19732, HG00422, HG01912, HG03139, HG00708, HG02409, NA19916, HG02271, HG02286, HG02353, HG00693, HG01119, NA18611, HG01177, HG02522, HG01842, HG01892, HG01985, HG03372, NA18549, NA18853, HG00442, HG02798, HG00473, HG03012, NA18981, HG01462, HG03515, HG00684, NA19185, NA19758, HG00476, NA19448, HG00622, HG03826, NA19087, HG02332, HG00704, HG01869, NA18555, HG02095, HG01474, HG01980, NA19058, HG00531, HG02512, HG02769, HG01578, HG02253, NA18962, HG01870, HG01864, HG03370, NA19137, HG02427, HG01813, NA19625, HG00734, HG01359, NA19436, HG00607, HG02108, HG01241, HG02165, HG02184, HG03521, HG03280, HG00743, HG01302, NA18933, NA19404, HG03437, HG02799, NA19783, HG00449, HG01849, HG01794, NA18570, HG02318, HG03295, NA18639, NA12340, NA18948, HG02943, HG02260, HG03969, NA18877, HG02014, HG03663, HG00452, HG01492, HG03046, HG02887, HG02002, NA18573, NA18608, HG03048, HG00446, HG02379, NA19210, HG01954, HG01577, NA19004, NA19678, HG01961, HG01990, HG03485, NA18965, HG02323, NA18488, HG01871, NA19084, NA19780, HG01843, HG02583, HG03572, HG01950, NA19467, HG00479, HG03159, NA19438, HG03376, HG02895, NA18559, NA19726, HG01982, NA19428, HG02981, NA18998, NA20885, NA18624, NA19054, HG02634, HG03672, NA19059, HG00472, NA19652, NA18566, NA18957, NA19068, HG01865, HG01938, NA18618, HG01595, HG02292, NA18644, HG03578, HG03774, HG02032, HG01495, HG01851, NA18991, HG00689, NA18856, HG02861, HG01795, NA18638, NA19440, HG03445, HG01556, NA18547, NA18976, NA19256, HG02028, NA20282, HG03565, HG03604, NA19658, HG00637, NA19681, NA21144, NA18634, NA18643, NA20589, HG01599, HG02756, NA18970, HG02941, HG00436, HG02058, HG02283, HG00620, HG02304, HG02131, HG03190, NA18645, NA19172, NA18525, HG01308, NA18572, NA20126, HG01806, HG03455, NA18498, NA18923, HG00559, HG01271, HG01914, HG04070, HG02594, HG04173, NA19657, HG00560, HG03472, HG02040, HG02439, HG01853, NA18977, NA19098, NA18749, HG02401, HG01176, HG01356, NA18748, HG01923, HG03518, NA19347, HG02147, HG02502, HG01447, NA18562, NA19074, HG02052, HG02180, HG00589, NA18945, HG01149, HG02026, NA18606, HG01979, HG02345, HG03363, NA18582, NA18999, HG01063, HG01162, HG03446, HG00590, NA18552, NA18983, HG00443, HG02067, NA18599, HG02635, NA18567, HG02182, HG02134, NA18646, HG02075, NA19741, HG03556, NA18989, HG00409
Known GenesTMEM43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595362
Frequency
Sample Size2504
Observed Gain0
Observed Loss467
Observed Complex0
Frequencyn/a


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