A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624778



Internal ID7011628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122584915..122593721hg38UCSC Ensembl
chr10:124344431..124353237hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg388807
hg198807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv170e214
Supporting Variantsessv13956254, essv13956335, essv13956324, essv13956461, essv13956431, essv13956134, essv13956099, essv13956496, essv13956552, essv13956238, essv13956183, essv13956144, essv13956186, essv13956156, essv13956358, essv13956122, essv13956077, essv13956119, essv13956403, essv13956494, essv13956454, essv13956430, essv13956061, essv13956406, essv13956085, essv13956384, essv13956498, essv13956341, essv13956533, essv13956334, essv13956114, essv13956116, essv13956511, essv13956194, essv13956438, essv13956073, essv13956236, essv13956292, essv13956308, essv13956314, essv13956309, essv13956493, essv13956383, essv13956217, essv13956464, essv13956083, essv13956267, essv13956346, essv13956302, essv13956318, essv13956500, essv13956456, essv13956443, essv13956519, essv13956207, essv13956529, essv13956233, essv13956526, essv13956234, essv13956387, essv13956192, essv13956550, essv13956110, essv13956465, essv13956118, essv13956281, essv13956487, essv13956245, essv13956129, essv13956369, essv13956306, essv13956168, essv13956198, essv13956098, essv13956530, essv13956211, essv13956104, essv13956206, essv13956145, essv13956128, essv13956080, essv13956405, essv13956152, essv13956305, essv13956450, essv13956420, essv13956401, essv13956071, essv13956337, essv13956237, essv13956132, essv13956386, essv13956244, essv13956326, essv13956078, essv13956520, essv13956096, essv13956365, essv13956103, essv13956313, essv13956452, essv13956160, essv13956347, essv13956477, essv13956474, essv13956445, essv13956304, essv13956230, essv13956052, essv13956463, essv13956338, essv13956285, essv13956276, essv13956432, essv13956163, essv13956117, essv13956418, essv13956087, essv13956427, essv13956436, essv13956544, essv13956164, essv13956368, essv13956497, essv13956441, essv13956121, essv13956363, essv13956153, essv13956300, essv13956298, essv13956138, essv13956339, essv13956429, essv13956514, essv13956455, essv13956277, essv13956167, essv13956286, essv13956262, essv13956333, essv13956402, essv13956190, essv13956175, essv13956174, essv13956516, essv13956453, essv13956195, essv13956534, essv13956056, essv13956169, essv13956115, essv13956466, essv13956275, essv13956150, essv13956109, essv13956131, essv13956058, essv13956054, essv13956499, essv13956320, essv13956492, essv13956378, essv13956231, essv13956181, essv13956162, essv13956151, essv13956398, essv13956542, essv13956362, essv13956266, essv13956176, essv13956505, essv13956102, essv13956060, essv13956458, essv13956240, essv13956426, essv13956547, essv13956220, essv13956525, essv13956446, essv13956468, essv13956225, essv13956317, essv13956390, essv13956472, essv13956222, essv13956359, essv13956205, essv13956480, essv13956440, essv13956325, essv13956301, essv13956095, essv13956072, essv13956447, essv13956212, essv13956218, essv13956327, essv13956297, essv13956364, essv13956079, essv13956180, essv13956063, essv13956414, essv13956417, essv13956428, essv13956393, essv13956488, essv13956489, essv13956137, essv13956295, essv13956294, essv13956435, essv13956548, essv13956522, essv13956257, essv13956214, essv13956202, essv13956344, essv13956425, essv13956178, essv13956374, essv13956075, essv13956216, essv13956352, essv13956329, essv13956408, essv13956366, essv13956336, essv13956331, essv13956271, essv13956345, essv13956255, essv13956226, essv13956241, essv13956053, essv13956421, essv13956361, essv13956501, essv13956081, essv13956517, essv13956439, essv13956422, essv13956392, essv13956471, essv13956394, essv13956481, essv13956076, essv13956415, essv13956055, essv13956442, essv13956280, essv13956264, essv13956204, essv13956350, essv13956376, essv13956349, essv13956535, essv13956105, essv13956135, essv13956290, essv13956495, essv13956125, essv13956310, essv13956279, essv13956451, essv13956246, essv13956539, essv13956182, essv13956484, essv13956545, essv13956373, essv13956213, essv13956381, essv13956283, essv13956259, essv13956251, essv13956551, essv13956196, essv13956356, essv13956296, essv13956411, essv13956351, essv13956112, essv13956274, essv13956404, essv13956100, essv13956249, essv13956185, essv13956273, essv13956391, essv13956554, essv13956303, essv13956307, essv13956287, essv13956166, essv13956503, essv13956370, essv13956343, essv13956469, essv13956328, essv13956223, essv13956354, essv13956460, essv13956311, essv13956157, essv13956124, essv13956348, essv13956479, essv13956416, essv13956227, essv13956553, essv13956069, essv13956508, essv13956528, essv13956509, essv13956288, essv13956228, essv13956312, essv13956097, essv13956242, essv13956546, essv13956459, essv13956209, essv13956486, essv13956475, essv13956101, essv13956521, essv13956315, essv13956107, essv13956555, essv13956372, essv13956059, essv13956504, essv13956473, essv13956293, essv13956467, essv13956092, essv13956395, essv13956371, essv13956397, essv13956127, essv13956523, essv13956433, essv13956093, essv13956089, essv13956232, essv13956323, essv13956170, essv13956133, essv13956247, essv13956130, essv13956143, essv13956407, essv13956357, essv13956483, essv13956367, essv13956541, essv13956149, essv13956272, essv13956210, essv13956057, essv13956243, essv13956179, essv13956353, essv13956084, essv13956065, essv13956219, essv13956437, essv13956263, essv13956250, essv13956299, essv13956142, essv13956155, essv13956062, essv13956399, essv13956269, essv13956161, essv13956532, essv13956549, essv13956201, essv13956172, essv13956423, essv13956082, essv13956424, essv13956444, essv13956330, essv13956235, essv13956253, essv13956377, essv13956189, essv13956173, essv13956094, essv13956413, essv13956070, essv13956140, essv13956543, essv13956515, essv13956385, essv13956316, essv13956485, essv13956470, essv13956068, essv13956527, essv13956113, essv13956159, essv13956291, essv13956400, essv13956506, essv13956126, essv13956066, essv13956448, essv13956106, essv13956197, essv13956261, essv13956086, essv13956462, essv13956409, essv13956342, essv13956512, essv13956410, essv13956265, essv13956215, essv13956248, essv13956148, essv13956120, essv13956518, essv13956064, essv13956067, essv13956252, essv13956165, essv13956531, essv13956457, essv13956538, essv13956380, essv13956188, essv13956258, essv13956332, essv13956260, essv13956278, essv13956239, essv13956510, essv13956268, essv13956256, essv13956141, essv13956123, essv13956108, essv13956524, essv13956139, essv13956478, essv13956322, essv13956191, essv13956154, essv13956146, essv13956171, essv13956537, essv13956434, essv13956490, essv13956199, essv13956491, essv13956388, essv13956382, essv13956419, essv13956482, essv13956270, essv13956091, essv13956536, essv13956074, essv13956321, essv13956355, essv13956187, essv13956360, essv13956513, essv13956507, essv13956284, essv13956224, essv13956502, essv13956289, essv13956340, essv13956193, essv13956375, essv13956184, essv13956088, essv13956389, essv13956147, essv13956540, essv13956203, essv13956449, essv13956282, essv13956090, essv13956476, essv13956177, essv13956396, essv13956200, essv13956319, essv13956221, essv13956208, essv13956111, essv13956229, essv13956136, essv13956412, essv13956158, essv13956379
SamplesHG01986, HG01985, NA18502, NA20339, NA19028, HG02496, HG01965, NA18947, HG01885, HG01031, HG04060, HG03517, NA21100, HG01326, NA18979, HG03449, HG02419, HG02836, HG02798, HG02323, HG03521, HG02624, HG03295, NA19377, HG01461, HG03372, NA19920, HG03069, HG01350, NA19379, NA19315, HG02140, NA21130, HG02840, HG02756, HG02645, HG02299, HG01063, HG03040, NA20291, HG02562, HG03520, NA19238, HG03045, HG01973, NA20412, HG03073, NA19025, HG03585, NA18867, NA19789, HG02479, HG01200, HG01122, HG03511, HG01857, NA19175, HG02449, NA19043, HG02144, NA19081, HG03159, HG02014, NA18879, NA19084, HG02445, HG03446, HG02601, HG02666, NA19452, NA19318, HG02332, HG02635, HG01697, HG01988, HG04093, HG02675, HG01896, HG02772, NA19729, NA18533, HG02557, NA19712, NA19434, HG03708, HG02546, NA19454, HG02721, NA19331, HG02391, HG01174, NA18865, NA19428, HG03473, HG02464, NA20281, NA19360, HG02771, NA19328, HG02379, HG00513, HG02971, HG00478, HG03157, HG01935, NA19351, HG03313, HG02768, NA18873, HG02013, HG03470, HG03401, NA19121, HG00595, HG02353, HG01920, NA19129, NA18624, HG02851, HG03198, HG03815, NA18612, NA19431, HG03265, HG00626, HG02339, NA19700, NA18924, NA19466, NA18592, HG02973, HG04229, HG02702, NA18980, NA18561, NA18507, NA18881, NA18599, HG01389, NA18641, NA18877, HG03558, NA19092, HG03280, NA20346, HG03172, NA19190, NA18962, HG01924, HG01341, NA19076, NA18550, NA18489, HG03499, HG01064, HG02541, NA19723, NA19916, HG01945, NA19649, NA19023, NA18498, NA19681, HG03209, NA12282, HG03556, HG02315, HG02003, NA20340, NA18617, HG03624, NA19471, HG01892, HG03352, NA19026, NA19725, NA19189, HG02946, HG03750, NA19209, HG03583, NA18908, HG03884, NA19451, HG02402, HG01784, HG03120, HG00629, HG01360, NA19707, HG02334, HG02582, NA19462, NA19347, NA18644, HG02511, NA19391, HG02554, HG02450, HG01810, HG02953, HG02307, NA18910, HG01880, HG04180, HG03294, HG02555, HG03563, NA19118, NA19000, HG02817, HG03202, NA18499, HG02008, NA19031, NA19001, HG02283, HG03391, HG01990, HG01363, NA19401, HG02613, HG04134, NA19108, NA18559, HG03367, HG00742, HG02983, HG02064, NA19732, HG01362, HG01253, HG03433, HG03127, HG03419, HG03019, NA19818, NA19323, NA19143, HG00707, HG00446, HG03442, NA19438, HG03025, HG02646, HG01783, NA19713, HG03258, HG03998, NA18552, HG01377, HG03922, NA18505, NA19146, HG01863, HG02574, HG02944, HG02072, HG02385, NA19204, NA18861, NA18508, HG01815, HG03115, HG02012, NA19350, NA18639, HG03298, NA20294, NA19355, NA20298, HG03126, NA18959, HG02589, NA19443, HG03999, HG00641, NA18519, HG02621, HG02016, NA18597, HG03452, HG01351, HG02952, HG00599, NA18923, NA18567, HG02085, HG02301, HG03578, NA18571, NA20287, HG02816, NA19130, HG02981, HG02278, NA11930, NA19923, HG02143, NA19041, NA19372, NA19207, NA18748, NA19722, HG03814, HG02545, NA20355, NA20342, NA20127, HG03394, HG02477, NA18539, HG03343, HG03714, HG03990, NA18933, HG02057, NA19455, HG02887, HG01142, HG03575, NA18871, HG03081, HG02508, HG01149, NA18534, HG00551, HG00740, NA19654, HG03730, HG02429, HG02577, HG03713, HG01870, HG02259, HG01101, NA19099, HG03914, HG02594, NA18858, HG03653, HG03064, HG02660, HG00407, NA19375, HG02330, NA19309, NA19149, NA19147, HG03437, HG01551, HG01357, NA19835, HG02982, HG02317, HG02019, HG01086, NA18501, HG03112, HG02095, HG03097, HG03066, NA19716, NA19468, HG03063, HG03060, NA19116, NA19780, HG03077, HG00728, NA19900, HG02763, NA19316, NA19312, NA18968, HG03303, HG03166, NA18620, HG03514, HG00403, HG03096, NA19141, HG03366, HG02610, HG03548, NA19914, HG02433, NA21092, HG03607, NA19020, HG03130, NA18486, HG03190, NA19393, HG03100, HG01456, HG03518, HG03944, HG03074, HG00622, HG04100, NA19005, NA19201, HG03135, NA19762, HG02485, HG01997, NA19119, HG03370, HG03905, NA18642, NA19088, HG03079, HG02489, HG02505, HG03803, HG01398, NA19383, HG02512, HG01628, NA19137, HG01369, HG03195, NA20869, HG02571, HG03058, HG02715, HG03048, HG01312, HG02009, HG03902, HG02977, HG02265, HG03054, NA18934, HG00596, HG01595, HG01247, HG02025, NA19152, HG01271, HG03547, HG02397, HG00701, NA19236, HG02322, NA20895, HG00436, NA18915, HG03428, HG02968, NA18630, HG03124, NA18757, HG01390, NA20299, HG03136, HG03476, NA18856, NA19113, NA19740, HG02292, NA19257, HG03755, NA19095, NA18945, HG02484, NA18608, HG02455, HG02807, NA18909, NA19321, HG02799, HG01915, NA19435, NA19380, HG01494, NA19439, HG02839, HG03108, NA20357, NA20348, HG02974, HG02970, HG03049, NA20334, HG02053, HG02392, HG02462, HG02679, HG01817, NA19213, HG02052, HG02051, HG03376, HG02465, NA18511, HG02284, HG01869, HG03931, HG03118, HG00978, NA18965, HG03196
Known GenesDMBT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624778
Frequency
Sample Size2504
Observed Gain504
Observed Loss0
Observed Complex0
Frequencyn/a


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