A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630579



Internal ID7017396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101708632..101713337hg38UCSC Ensembl
Innerchr12:101708632..101713337hg38UCSC Ensembl
Outerchr12:101708322..101713708hg38UCSC Ensembl
chr12:102102410..102107115hg19UCSC Ensembl
Innerchr12:102102410..102107115hg19UCSC Ensembl
Outerchr12:102102100..102107486hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384706
hg194706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14590550, essv14590394, essv14590398, essv14590321, essv14590569, essv14590291, essv14590371, essv14590516, essv14590420, essv14590385, essv14590341, essv14590383, essv14590530, essv14590577, essv14590511, essv14590270, essv14590296, essv14590543, essv14590483, essv14590571, essv14590355, essv14590317, essv14590616, essv14590224, essv14590472, essv14590432, essv14590238, essv14590580, essv14590509, essv14590537, essv14590451, essv14590246, essv14590274, essv14590421, essv14590256, essv14590485, essv14590584, essv14590405, essv14590319, essv14590260, essv14590219, essv14590329, essv14590502, essv14590467, essv14590415, essv14590293, essv14590263, essv14590363, essv14590455, essv14590381, essv14590618, essv14590320, essv14590538, essv14590354, essv14590594, essv14590501, essv14590499, essv14590258, essv14590301, essv14590545, essv14590227, essv14590267, essv14590294, essv14590603, essv14590589, essv14590547, essv14590606, essv14590378, essv14590615, essv14590477, essv14590244, essv14590556, essv14590254, essv14590437, essv14590247, essv14590242, essv14590619, essv14590425, essv14590342, essv14590519, essv14590403, essv14590240, essv14590231, essv14590539, essv14590298, essv14590582, essv14590358, essv14590552, essv14590339, essv14590544, essv14590479, essv14590563, essv14590233, essv14590375, essv14590304, essv14590494, essv14590474, essv14590574, essv14590524, essv14590489, essv14590382, essv14590561, essv14590555, essv14590450, essv14590239, essv14590612, essv14590417, essv14590609, essv14590452, essv14590364, essv14590564, essv14590315, essv14590218, essv14590418, essv14590349, essv14590478, essv14590390, essv14590303, essv14590230, essv14590429, essv14590409, essv14590327, essv14590465, essv14590404, essv14590366, essv14590435, essv14590597, essv14590442, essv14590388, essv14590344, essv14590453, essv14590527, essv14590572, essv14590532, essv14590379, essv14590365, essv14590333, essv14590565, essv14590377, essv14590579, essv14590248, essv14590596, essv14590280, essv14590285, essv14590387, essv14590513, essv14590337, essv14590314, essv14590374, essv14590232, essv14590486, essv14590481, essv14590397, essv14590386, essv14590338, essv14590576, essv14590335, essv14590588, essv14590488, essv14590487, essv14590325, essv14590213, essv14590605, essv14590223, essv14590249, essv14590352, essv14590470, essv14590257, essv14590222, essv14590434, essv14590284, essv14590610, essv14590553, essv14590243, essv14590236, essv14590237, essv14590215, essv14590330, essv14590604, essv14590282, essv14590599, essv14590567, essv14590362, essv14590216, essv14590562, essv14590449, essv14590297, essv14590346, essv14590441, essv14590528, essv14590241, essv14590463, essv14590557, essv14590423, essv14590309, essv14590427, essv14590259, essv14590307, essv14590334, essv14590392, essv14590621, essv14590399, essv14590369, essv14590468, essv14590308, essv14590413, essv14590357, essv14590306, essv14590445, essv14590255, essv14590347, essv14590287, essv14590391, essv14590614, essv14590361, essv14590443, essv14590408, essv14590431, essv14590505, essv14590359, essv14590585, essv14590570, essv14590253, essv14590310, essv14590510, essv14590416, essv14590506, essv14590436, essv14590430, essv14590428, essv14590396, essv14590276, essv14590393, essv14590380, essv14590318, essv14590546, essv14590460, essv14590353, essv14590401, essv14590272, essv14590611, essv14590448, essv14590438, essv14590419, essv14590542, essv14590508, essv14590288, essv14590529, essv14590503, essv14590305, essv14590235, essv14590471, essv14590466, essv14590566, essv14590456, essv14590592, essv14590410, essv14590264, essv14590324, essv14590593, essv14590482, essv14590476, essv14590389, essv14590583, essv14590295, essv14590526, essv14590573, essv14590326, essv14590311, essv14590250, essv14590518, essv14590220, essv14590283, essv14590302, essv14590407, essv14590262, essv14590578, essv14590350, essv14590286, essv14590533, essv14590587, essv14590515, essv14590496, essv14590360, essv14590586, essv14590568, essv14590490, essv14590458, essv14590322, essv14590234, essv14590268, essv14590343, essv14590400, essv14590356, essv14590575, essv14590454, essv14590492, essv14590351, essv14590266, essv14590373, essv14590290, essv14590480, essv14590613, essv14590372, essv14590440, essv14590620, essv14590226, essv14590340, essv14590469, essv14590462, essv14590348, essv14590464, essv14590523, essv14590495, essv14590370, essv14590446, essv14590328, essv14590600, essv14590412, essv14590292, essv14590607, essv14590422, essv14590275, essv14590336, essv14590459, essv14590406, essv14590411, essv14590252, essv14590273, essv14590214, essv14590560, essv14590541, essv14590473, essv14590498, essv14590457, essv14590265, essv14590229, essv14590299, essv14590271, essv14590376, essv14590590, essv14590221, essv14590289, essv14590554, essv14590312, essv14590313, essv14590534, essv14590384, essv14590581, essv14590277, essv14590251, essv14590512, essv14590497, essv14590500, essv14590549, essv14590531, essv14590433, essv14590368, essv14590316, essv14590558, essv14590484, essv14590447, essv14590261, essv14590426, essv14590332, essv14590551, essv14590461, essv14590559, essv14590402, essv14590514, essv14590504, essv14590331, essv14590439, essv14590521, essv14590608, essv14590536, essv14590591, essv14590424, essv14590493, essv14590475, essv14590367, essv14590217, essv14590414, essv14590535, essv14590300, essv14590278, essv14590212, essv14590520, essv14590225, essv14590279, essv14590617, essv14590281, essv14590601, essv14590491, essv14590323, essv14590598, essv14590507, essv14590517, essv14590345, essv14590602, essv14590245, essv14590395, essv14590522, essv14590444, essv14590540, essv14590228, essv14590595, essv14590548, essv14590525, essv14590269
SamplesHG01412, HG01918, HG01965, HG01462, NA18621, HG02385, HG02002, NA19664, HG00671, HG00358, NA21099, HG03753, HG01815, HG01602, NA11931, HG00151, NA18999, HG02078, NA18528, NA20864, NA19684, NA20517, HG02154, NA21128, NA20356, NA18633, NA20359, NA12399, NA20806, HG01522, NA18969, NA18627, HG03837, HG00641, HG00138, HG00272, HG04038, HG03754, NA19764, HG01351, HG03808, NA19678, NA18567, HG01968, NA18960, HG02860, NA07048, NA11918, NA18582, NA12762, HG01372, NA11930, HG03887, HG03619, HG03817, HG01069, HG03910, HG03520, HG02561, HG01519, HG02389, HG00534, NA18966, HG01973, HG02190, HG02178, NA19722, HG01771, HG01121, HG01626, HG03585, NA20755, HG04075, HG03784, HG02164, HG01851, HG01565, HG01124, HG00154, NA20904, NA18747, NA12489, HG01847, HG00443, HG01867, NA19070, NA19670, HG03718, HG02345, NA12878, HG01789, NA19086, HG00101, NA19663, HG01845, HG01768, HG00344, NA19081, HG03775, HG01941, NA12718, HG01077, NA18572, HG01607, NA18537, HG03730, HG00250, NA20901, NA19084, NA20581, HG03713, HG01870, NA11840, HG01613, NA19750, NA18912, HG03643, HG01593, HG00140, NA19752, HG03953, HG04063, HG02979, NA19009, HG02286, HG01680, HG03752, HG04159, NA18531, NA12778, HG00240, NA18974, HG03720, HG03238, NA19003, HG01812, NA20872, NA18517, NA18564, NA19747, HG00353, NA18628, HG03949, HG02790, HG01685, HG02304, NA12873, HG02391, HG01396, NA20520, HG01174, NA20530, NA20362, HG01375, HG03869, HG01620, HG01798, HG01137, HG00116, NA19783, NA12763, HG02019, NA18615, HG01785, HG01765, HG00513, NA18631, HG01868, NA20849, NA18609, HG01631, HG00112, NA19770, HG03872, NA20826, NA19780, HG01468, HG02774, NA20503, HG01431, HG01920, HG01756, NA11892, NA19065, NA18740, HG03985, NA18612, HG01927, NA19074, HG00553, HG00581, NA21120, NA11832, NA21091, HG01507, HG00593, NA18997, HG00096, HG00881, HG01060, HG01413, HG00235, HG01441, HG01521, HG01356, HG01054, HG00536, NA19794, HG01303, HG03965, HG01961, HG03960, NA18592, HG00524, HG01860, HG01052, HG02262, HG04211, HG01280, NA19734, HG03589, NA20532, NA12045, NA19795, HG01465, NA19819, HG02058, HG00566, HG00179, HG00150, NA19669, NA18526, HG03836, NA18962, HG01140, NA12413, HG01924, NA18967, HG00622, NA19068, HG01250, NA19746, HG04100, HG00127, HG01503, NA18550, HG02153, HG01366, HG01070, HG01853, HG02491, HG03976, HG02155, NA18982, HG03765, HG04144, NA12348, HG01945, HG02130, HG00610, HG00346, HG03762, HG02111, HG01110, HG00590, NA20541, HG03793, NA12282, NA12005, HG01067, HG00120, HG02512, HG02003, NA18977, HG03595, HG00262, NA19731, HG01767, NA19075, NA18617, HG03624, HG01892, NA19087, HG04238, HG01440, HG00309, HG01259, NA20811, NA19725, HG00637, NA18975, HG00178, NA18638, NA12748, HG01942, HG00260, NA20818, HG03709, HG02009, HG00543, HG01784, HG01183, HG00560, HG02265, HG01248, NA20787, HG04225, HG00596, HG02513, HG02334, HG01104, HG02090, HG00190, HG01344, NA18956, NA18644, HG00701, HG01938, HG01612, HG01088, HG00584, NA19788, NA20506, HG04019, NA18757, HG02555, HG01447, HG01777, HG01619, HG01414, HG04054, HG03660, HG03476, HG00373, HG02008, HG01707, HG01504, HG02649, NA18946, HG01182, HG00525, HG00157, HG03571, HG01705, NA20828, NA19756, HG03354, HG03991, HG01589, HG00445, NA18945, HG00128, HG01363, HG02282, NA11881, NA19834, HG02799, NA19735, NA19749, HG02696, HG00357, HG00638, NA20804, HG02923, HG02651, NA19773, NA07051, NA12046, HG01623, HG00308, NA18992, HG00607, HG01974, HG01260, NA20516, HG02139, NA20797, NA06986, HG01862, HG00269, NA19759, HG01395, HG04023, HG00707, HG00409, HG01556, HG01783, HG02396, HG01085, HG03615, HG02410, HG01817, NA18552, HG01105, HG01251, HG01617, HG00472, NA07056, HG03922, NA19758, HG01566, HG02343, HG02006, HG01923, HG01578, HG03686, HG01695, HG01583, HG00978, HG01608
Known GenesCHPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630579
Frequency
Sample Size2504
Observed Gain0
Observed Loss410
Observed Complex0
Frequencyn/a


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