A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669663



Internal ID9935768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172041605..172045994hg38UCSC Ensembl
Outerchr2:172041084..172046614hg38UCSC Ensembl
Innerchr2:172906516..172910722hg19UCSC Ensembl
Outerchr2:172905995..172911342hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385531
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv747e199
Supporting Variantsessv6258181, essv6084529, essv5866229, essv5831060, essv5496178, essv5405125, essv5612216, essv6214775, essv5930775, essv5778448, essv6208680, essv6362164, essv5404182, essv6178602, essv5411112, essv5750982, essv5830252, essv6491151, essv6560043, essv6209073, essv5969108, essv5663942, essv5716418, essv5527420, essv6251366, essv5746055, essv6544984, essv5795398, essv5686139, essv6342154, essv5449981, essv5791558, essv6160345, essv5682530, essv5775754, essv5667081, essv6299958, essv6021824, essv5996550, essv5941283, essv5856598, essv5813896, essv5621772, essv5570053, essv6332471, essv6404024, essv5934366, essv6033706, essv6552048, essv5699690, essv5680690, essv5996489, essv6170143, essv5494255, essv5558651, essv6181990, essv6144442, essv5807279, essv5415479, essv5421787, essv5670948, essv5506016, essv6545751, essv5847293, essv5891617, essv5494493, essv5983903, essv6334658, essv6152693, essv5783490, essv6115441, essv6065091, essv6104576, essv5506968, essv5964302, essv5575837, essv5980489, essv6241585, essv5807043, essv5500423, essv6270471, essv5806657, essv6287151, essv6185613, essv6543278, essv6047095, essv5677084, essv6400454, essv6165614, essv6071437, essv6000265, essv5736864, essv6548687, essv5896957, essv6525005, essv6267555, essv5914810, essv6272572, essv5921919, essv5586651, essv5456367, essv6538028, essv6499826, essv5672119, essv5688500, essv5504295, essv6391950, essv5751661, essv6444177, essv6272340, essv6351952, essv5778301, essv6189911, essv6558291, essv6529443, essv5915021, essv5622786, essv6114021, essv6328354, essv5592529, essv5476901, essv5854752, essv6257055, essv5816892, essv6044726, essv5515675, essv6505180, essv5711083, essv5819263, essv5771208, essv5607038, essv6269670, essv5668153, essv5625518, essv6487203, essv6500670, essv5756266, essv5986256, essv6351346, essv6356843, essv6056804, essv6426364, essv6305308, essv5654348, essv5974611, essv6413957, essv6165823, essv5708946, essv5501218, essv6514718, essv6442913, essv6162660, essv5843967, essv5491436, essv6443395, essv5435580, essv6339776, essv5902767, essv6290765, essv6459036, essv5863449, essv5677296, essv6178976, essv5764981, essv5891137, essv5754665, essv6155927, essv5659943, essv5511014, essv6404817, essv6000914, essv5500483, essv5543627, essv5749492, essv5873925, essv5764382, essv5575003, essv5930058, essv5643844, essv5908478, essv5769163, essv5547173, essv6034479, essv5672315, essv6544525, essv5773030, essv5929579, essv6402617, essv6194653, essv5689717, essv5441062, essv6230921, essv6312056, essv6514184, essv6580163, essv6275968, essv6062489, essv6335811, essv5507309, essv5713598, essv6315162, essv5567172, essv6094398, essv5516066
SamplesNA12383, HG01060, HG01441, NA12717, NA19648, HG01098, HG00143, HG00142, HG00249, NA19664, NA11995, NA11829, NA10851, HG01359, NA12273, NA12414, HG01079, HG00100, NA11920, NA11931, HG00257, HG01389, HG01374, HG01066, HG00315, HG00233, HG00244, HG00181, NA12751, HG01465, NA12004, HG01456, NA19684, NA12058, HG00150, NA12400, HG01051, HG00261, NA12155, NA07357, NA12341, NA12813, NA07346, HG01250, NA19746, HG00138, HG01350, HG01366, HG01070, HG00122, NA19762, HG01351, NA19678, HG01167, HG01168, NA12348, HG00736, NA11918, HG00346, HG01354, NA12287, HG01365, HG00334, HG00158, NA11930, HG00277, NA12275, HG01069, HG01080, HG01067, HG00148, HG00106, NA12156, NA06984, HG01170, HG00236, HG00262, NA19719, NA11932, HG00232, HG01176, NA19722, HG00118, HG00338, HG00159, NA12828, HG00326, HG00178, NA19789, HG00108, HG00260, NA11831, NA10847, HG01353, HG00313, HG00137, HG00154, NA19657, HG01360, HG00266, HG00183, HG00176, HG01187, HG01171, HG01384, NA12342, HG01095, HG00368, NA19717, NA19663, HG00320, HG00344, HG00263, HG00275, NA19776, HG00740, NA19654, HG01102, HG00324, HG00284, HG01073, NA19774, NA19655, NA11893, HG01197, NA11894, NA19750, NA06989, HG00321, HG00157, NA12827, HG00146, NA12144, HG00141, HG00126, NA12546, NA19675, HG01204, HG01075, NA12043, NA19685, HG01148, HG00155, HG00254, HG00119, NA11881, HG01190, HG00285, NA19749, NA19747, HG00366, HG00353, HG00375, HG01253, HG00734, HG00136, HG01357, HG01174, NA19679, HG00319, HG01108, NA07037, HG00256, HG01489, NA12347, HG00339, HG00125, HG00111, NA19785, HG00259, NA19779, HG00329, NA12749, HG00342, NA19716, HG01254, HG01055, HG00123, HG00310, HG00186, HG00112, NA19770, HG00280, HG00131, NA19726, NA11843, HG01251, HG00252, NA19661, NA07056, HG01378, NA19755, HG01082, NA19758, HG01125, HG00171, NA07000, NA12154, HG00554, HG01191, HG00180, HG01437, NA12776, NA19676
Known GenesMETAP1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669663
Frequency
Sample Size1151
Observed Gain0
Observed Loss204
Observed Complex0
Frequencyn/a


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