A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674887



Internal ID9594306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78509047..78509229hg38UCSC Ensembl
chr17:76505129..76505311hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5997724, essv6472797, essv6095667, essv6431089, essv6020857, essv6528797, essv5981002, essv5542650, essv6493949, essv5466403, essv6281309, essv6220153, essv6260712, essv5898883, essv5700049, essv5715516, essv6567952, essv5679737, essv5411971, essv6150125, essv6291226, essv6586799, essv5924469, essv5634953, essv6295802, essv6009590, essv6385401, essv6015171, essv6059073, essv6308305, essv6020007, essv5425285, essv6003932, essv6401935, essv5421087, essv5739193, essv5993149, essv5987320, essv5532667, essv6281160, essv6467680, essv6210182, essv5720358, essv6349855, essv5423996, essv5409589, essv5983417, essv6010383, essv5700739, essv6115730, essv6526836, essv6316051, essv5421302, essv6232929, essv5616978, essv6173029, essv5531284, essv5437276, essv6344941, essv6371986, essv6058236, essv6535204, essv6168211, essv6399648, essv5635822, essv6104990, essv6115439, essv6371331, essv6489079, essv5497967, essv5469945, essv6471159, essv5405545, essv5505779, essv6034492, essv5731853, essv5511716, essv5594590, essv6197809, essv5587028, essv6098832, essv5747651, essv6319894, essv6490512, essv6373530, essv6203935, essv6419471, essv6366322, essv5661557, essv6253885, essv5436994, essv5981279, essv5730572, essv6176057, essv5581481, essv5813984, essv5905923, essv5971666, essv6578282, essv6541184, essv6343655, essv6336672, essv6206247, essv6287246, essv6094983, essv6513655, essv5989515, essv6360764, essv6501727, essv5868580, essv5667596, essv6080148, essv6371238, essv6550573, essv5639057, essv5907288, essv6541884, essv6156892, essv6394631, essv5728044, essv6148332, essv6391612, essv5686901, essv5519633, essv5986964, essv5572343, essv6184924, essv5606410, essv6350075, essv6525007, essv6567994, essv5966923, essv5938542, essv5938303, essv5933953, essv6473607, essv5569955, essv5886900, essv5576034, essv5969799, essv5571858, essv5467587, essv5516940, essv5396557, essv5791553, essv6423232, essv5740115, essv5873491, essv5440193, essv5990162, essv6173328, essv5531175, essv6503310, essv5914455, essv6517517, essv5831682, essv5673785, essv6588489, essv5597725, essv6530120, essv5627941, essv6024689, essv6521274, essv5429431, essv5976488, essv6413314, essv6159278, essv6264130, essv5469490, essv5693480, essv5663627, essv5593163, essv6302696, essv6276319, essv6592177, essv5946849, essv5450208, essv6275062, essv5930896, essv6387701, essv5651953, essv5786294, essv6234233, essv6214566, essv5602456, essv5465790, essv5882598, essv5687721, essv5804644, essv5975021, essv6597916, essv6464708, essv6025223, essv5611425, essv6158087, essv5821748, essv5676792, essv5733999, essv6385708, essv5468544, essv6539890, essv5973587, essv6288674, essv5550270, essv5612730, essv6230371, essv5464834, essv6404690, essv5695149, essv6318436, essv5674750, essv6508894, essv6360397, essv6595696, essv5759590, essv6188338, essv5547591, essv5951946, essv6445717, essv6175702, essv6481799, essv6240817, essv5706748, essv6291088, essv6549391, essv5944049, essv5840036, essv6139459, essv5931134, essv5468230, essv5851963, essv5430401, essv5672506, essv5605808, essv5736422, essv5842675, essv6585946, essv5828742, essv5799053, essv5637468, essv5564648, essv6006980, essv5535306, essv5529403, essv5557532, essv5404590, essv5987638, essv6254931, essv5429119, essv6113292, essv5594591, essv5959713, essv5651893, essv5610930, essv6013448, essv5879290, essv6422303, essv6204584, essv5757398, essv5701579, essv5881163, essv5881710, essv5937588, essv6556277, essv6167773, essv6524258, essv5473992, essv6161366, essv5681901, essv6024350, essv6099916, essv6330900, essv5549403, essv5607838, essv5804688, essv5841431, essv6270855, essv5513939, essv5900486, essv5884798, essv6230661, essv5475620, essv5982026, essv5425649, essv6343862, essv5835405, essv5449311, essv6089377, essv6063944, essv6544416, essv6111687, essv6506857, essv5987193, essv5905675, essv6503800, essv5665334, essv6442820, essv6392853, essv6569197, essv6545551, essv6125499, essv6385447, essv5972211, essv6559358, essv5790258, essv6580167, essv6407038, essv5626245, essv5468664, essv5523268, essv6008223, essv5557161, essv6361375, essv6578580, essv5841511, essv6262864, essv6387780, essv6082644, essv5418578, essv5662284, essv6120503, essv6456117, essv6375137, essv5796565, essv6435611, essv5659997, essv5632857, essv5791621, essv5916691, essv5895815, essv5836706, essv5405964, essv6572860, essv6105079, essv5506261, essv6484557, essv5648534, essv5576104, essv5731805, essv6400514, essv6336510, essv6155834, essv6518155, essv5943794, essv5993199, essv5490157, essv5830007, essv6034470, essv5756414, essv6394996, essv5842456, essv6587952, essv5714994, essv6272964, essv5819983, essv5670699, essv6580296, essv6196124, essv6330382, essv6031532, essv6042371, essv6199669, essv6076276, essv5743772, essv6190179, essv5915412, essv6221491, essv5529688, essv6237326, essv5472476, essv5854976, essv6356213, essv5455281, essv6475792, essv5940810, essv5413136, essv5543056, essv6248258
SamplesNA19394, NA18502, NA19701, NA20761, HG00650, HG00542, NA12717, HG00442, NA12842, NA19703, HG01462, NA19909, NA18621, NA20766, NA12286, HG00671, HG00242, NA18861, NA11920, HG01066, HG00315, NA20816, NA20802, NA19350, NA19359, NA12751, NA20294, NA20332, NA19377, HG00737, HG01518, HG00449, NA18633, NA18510, NA12399, NA18988, HG00337, HG00271, HG00663, NA19446, NA07346, HG00138, NA19373, NA19379, NA18519, HG00589, NA18597, NA20589, HG01351, HG01177, NA18567, NA20795, HG01492, NA11918, NA07347, NA20768, NA18571, HG01365, NA19384, HG00537, NA19130, NA19079, HG00512, HG00281, HG00139, NA20759, HG01069, HG00335, NA20812, HG00325, HG00232, NA19238, NA19172, HG00705, HG00118, HG01133, HG00326, HG00323, NA18867, HG01550, HG00253, NA20515, NA19789, HG00137, NA12777, HG00154, NA18951, HG00731, HG00443, HG00268, HG01171, HG00282, NA19070, NA19403, HG00557, NA12878, NA20521, NA19663, HG00556, HG00583, HG00344, HG01498, HG00263, HG00275, NA12718, NA18572, HG01149, NA18948, NA18534, HG00551, HG00692, HG00740, NA18907, NA18537, NA19654, HG01102, HG00324, HG00284, NA18573, HG00651, HG00250, NA19084, HG00690, HG00479, NA20581, HG00331, HG00684, NA18532, NA06989, HG01101, HG01497, NA19059, HG01334, HG00146, NA19682, HG00246, NA18570, NA18858, NA18593, NA18541, HG01075, NA19012, NA12043, NA19375, HG00258, HG00254, NA19390, HG00336, NA19256, NA19147, HG00353, NA20815, HG00580, NA20520, HG01357, HG01174, HG01375, HG00473, NA20792, HG00237, NA19470, NA19428, NA19324, NA20544, HG01137, HG00116, NA20281, NA12763, HG00418, NA18610, HG00620, HG00339, NA18501, HG00614, HG00513, HG00478, HG00259, NA19779, HG00342, NA19093, NA18636, HG00310, NA19102, NA18873, NA19116, NA20826, NA18989, NA19129, NA11892, HG01125, NA20585, NA12154, NA18612, NA20754, NA19346, NA18487, HG01437, HG00581, NA18577, NA18620, HG01060, HG01441, NA19648, NA11830, HG00592, HG01521, HG01356, NA19055, HG00536, NA19397, NA18924, HG00249, NA11829, NA18592, HG00524, NA19914, HG01052, NA19332, HG01188, NA20531, NA18599, HG01389, HG01374, NA20813, NA20532, NA18603, HG00318, NA19092, NA18486, HG01465, NA19777, NA18596, NA12058, NA18606, NA20507, NA18870, NA18526, NA20537, NA19374, NA19381, NA19005, HG01366, NA19382, HG00689, HG00448, NA20586, NA19198, NA12891, HG00330, NA11992, NA19197, HG00346, NA12283, NA19138, NA19054, NA20513, NA18964, HG00590, HG01134, HG00277, NA19383, NA18874, NA20819, HG01170, HG00236, HG01072, NA19371, HG00422, HG01176, NA19002, HG00427, NA20811, NA19901, NA18520, HG00338, NA20533, NA18908, HG00264, NA12748, HG00108, HG00260, HG01353, HG00543, HG00313, HG01136, NA18613, HG00183, HG01187, HG01384, HG00328, NA12342, NA12003, HG00428, HG00701, NA20536, NA19391, NA19327, HG00320, HG00584, HG00533, NA18637, HG00500, NA19788, NA18910, NA20344, HG00619, HG00708, HG01390, NA18566, HG01073, NA19114, NA19000, HG00373, NA11894, NA18856, HG00117, HG00525, HG00321, NA12827, HG00276, NA20534, NA18945, HG01204, NA20765, NA18608, NA19401, HG00476, HG00124, NA18542, HG00119, NA18909, NA11881, HG00285, NA18559, NA12775, HG00375, NA20804, NA19240, HG00278, NA19773, NA19380, NA07051, NA20785, NA12046, HG00607, HG00319, HG01108, HG00256, NA06986, HG00125, NA19818, NA19376, HG00707, HG00672, HG00111, HG00578, HG01491, HG00421, NA19713, HG01055, HG00123, NA12830, HG00698, HG00131, NA19213, NA18552, HG00252, HG01377, NA18984, NA18505, HG01378, HG01082, NA19758, HG00345, HG00554, NA18549, HG01061, HG00437
Known GenesDNAH17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674887
Frequency
Sample Size1151
Observed Gain0
Observed Loss378
Observed Complex0
Frequencyn/a


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