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 Variantsessv5450208, essv5757398, essv5659997, essv6281309, essv5851963, essv6319894, essv5529403, essv6435611, essv6343655, essv5873491, essv6099916, essv5840036, essv5549403, essv6059073, essv5597725, essv5951946, essv5531284, essv5497967, essv5611425, essv6253885, essv5981002, essv5421087, essv5466403, essv6580167, essv5898883, essv5836706, essv5799053, essv5882598, essv5667596, essv5819983, essv5842456, essv5971666, essv5425285, essv5612730, essv6400514, essv5907288, essv6058236, essv5465790, essv5468230, essv5886900, essv5469490, essv5930896, essv5557161, essv5490157, essv5506261, essv6204584, essv5905923, essv5828742, essv5739193, essv6544416, essv6404690, essv6526836, essv6535204, essv6167773, essv6161366, essv6513655, essv5987320, essv6344941, essv6230661, essv5632857, essv5610930, essv5651953, essv5915412, essv6318436, essv6578282, essv6024350, essv5576034, essv5943794, essv6343862, essv6481799, essv6541184, essv6371238, essv5635822, essv6042371, essv6394631, essv6556277, essv5626245, essv5695149, essv5841431, essv6578580, essv5547591, essv5511716, essv5835405, essv5881710, essv5975021, essv5436994, essv6264130, essv6316051, essv6089377, essv5986964, essv6597916, essv6156892, essv6230371, essv5679737, essv5396557, essv6206247, essv6276319, essv5602456, essv5637468, essv6569197, essv5411971, essv6473607, essv6385708, essv5993149, essv5790258, essv5821748, essv5519633, essv6260712, essv5404590, essv6095667, essv6210182, essv5938303, essv6442820, essv5661557, essv6490512, essv6541884, essv6034492, essv5993199, essv5905675, essv6184924, essv5607838, essv6387701, essv6464708, essv5429119, essv5473992, essv6302696, essv5581481, essv5409589, essv6401935, essv5842675, essv6330382, essv6580296, essv5571858, essv6585946, essv5606410, essv5472476, essv5557532, essv5715516, essv5576104, essv5605808, essv6385401, essv5674750, essv6385447, essv5831682, essv6567994, essv6572860, essv6521274, essv5791553, essv6248258, essv6587952, essv5937588, essv6484557, essv5639057, essv6528797, essv6197809, essv5944049, essv5648534, essv6392853, essv6262864, essv5854976, essv5804644, essv5569955, essv5916691, essv5881163, essv5572343, essv6549391, essv6006980, essv6111687, essv5413136, essv5931134, essv5743772, essv6506857, essv5425649, essv6371331, essv6445717, essv6221491, essv6349855, essv5733999, essv5423996, essv5464834, essv5593163, essv5634953, essv6503310, essv6330900, essv6394996, essv5681901, essv6407038, essv6173029, essv6155834, essv6588489, essv5687721, essv5997724, essv6567952, essv5587028, essv6113292, essv6356213, essv5946849, essv6422303, essv6024689, essv5532667, essv6003932, essv5700739, essv6203935, essv6082644, essv6475792, essv6076276, essv5672506, essv6105079, essv6295802, essv6094983, essv6336672, essv6254931, essv5720358, essv5429431, essv5662284, essv6275062, essv5756414, essv5740115, essv6270855, essv5813984, essv5987193, essv5706748, essv6595696, essv6125499, essv5879290, essv5529688, essv6360397, essv6158087, essv6413314, essv6173328, essv5627941, essv5523268, essv6375137, essv6456117, essv5543056, essv6489079, essv6237326, essv5966923, essv5468544, essv5747651, essv5437276, essv6188338, essv6471159, essv6387780, essv6168211, essv5421302, essv6214566, essv5701579, essv6592177, essv6232929, essv5804688, essv5914455, essv5884798, essv5651893, essv5973587, essv5972211, essv6240817, essv5933953, essv5989515, essv6020007, essv6196124, essv6503800, essv6291088, essv6291226, essv6288674, essv6525007, essv6350075, essv5987638, essv5405964, essv6361375, essv5676792, essv5516940, essv6419471, essv5714994, essv6104990, essv6518155, essv5564648, essv6013448, essv5924469, essv6159278, essv5759590, essv6530120, essv5531175, essv5983417, essv5686901, essv5990162, essv5791621, essv6139459, essv5731805, essv6391612, essv5938542, essv5467587, essv6034470, essv5550270, essv6371986, essv5440193, essv5830007, essv5693480, essv6360764, essv6199669, essv5468664, essv5959713, essv5469945, essv6287246, essv6281160, essv5513939, essv6020857, essv6472797, essv6175702, essv6148332, essv5700049, essv6559358, essv5665334, essv5594591, essv5449311, essv5616978, essv5430401, essv6015171, essv6586799, essv5969799, essv5900486, essv6493949, essv6190179, essv6308305, essv5475620, essv5796565, essv6115730, essv6423232, essv5728044, essv6150125, essv5670699, essv6031532, essv6545551, essv6399648, essv6467680, essv6008223, essv6080148, essv5940810, essv5455281, essv6524258, essv6272964, essv5981279, essv6120503, essv6220153, essv6115439, essv6517517, essv6063944, essv5405545, essv6431089, essv6176057, essv6009590, essv6373530, essv6501727, essv6098832, essv5505779, essv5868580, essv5594590, essv5663627, essv6025223, essv5786294, essv6010383, essv5730572, essv5976488, essv6550573, essv5982026, essv6336510, essv5841511, essv5535306, essv5731853, essv5418578, essv6234233, essv5895815, essv5736422, essv5673785, essv6366322, essv6539890, essv5542650, essv6508894
SamplesHG01357, HG01441, NA19012, NA11881, NA18621, NA18870, NA12154, HG00537, HG00252, NA07347, NA18520, NA18951, HG00619, NA18534, HG01353, HG00418, NA12286, HG00551, NA12342, HG00328, NA19114, HG00705, HG00437, HG00500, NA11920, NA18501, NA19093, HG00131, NA20544, NA18526, NA20531, NA11918, NA18603, HG01389, NA20759, NA19359, HG00614, HG01365, NA19788, HG01082, HG00428, HG00542, HG01174, HG00139, NA18541, NA19379, NA12058, HG00698, HG00111, HG00581, NA07051, HG00335, HG01101, HG01134, NA19682, NA19701, HG00319, HG00737, HG00253, NA18505, NA20521, HG01171, HG00353, NA18596, HG00554, HG00592, HG01550, HG00556, HG00242, NA12763, HG00346, HG01384, HG01375, NA19390, HG00421, HG01378, NA20811, HG00259, NA19197, HG01061, HG00692, NA18636, NA18592, HG00315, HG00330, HG00338, HG00533, NA20765, HG00125, HG00258, NA19256, HG01136, NA11894, NA18637, NA20520, HG00264, NA19773, NA18593, HG00254, NA19663, HG00276, HG00284, HG01187, NA12830, NA12777, NA20589, HG00237, HG00584, NA19324, NA12751, HG01497, NA19000, NA19055, NA19213, HG00373, HG00620, NA19377, NA19380, HG01437, HG00124, NA07346, NA12046, HG00108, NA18537, NA18620, HG01465, NA19129, NA19172, NA18633, NA18572, NA19374, NA19703, NA20536, HG00268, HG01066, NA19375, NA19373, NA19384, HG00325, NA20795, NA20826, NA18486, NA19102, HG00263, NA06986, NA19238, NA19005, NA18510, NA20344, HG00260, NA18502, NA19002, NA19713, HG01073, HG00672, NA19901, HG00282, HG01170, HG00232, HG01069, HG01176, HG01356, HG00249, HG00478, NA11892, NA18487, NA18858, HG00116, HG00277, HG01351, NA19332, NA19909, NA20815, HG00740, NA18613, HG00513, HG00524, NA18988, HG00512, NA20766, HG00246, HG00525, NA12283, HG01060, NA18910, NA19382, NA20813, NA19789, HG00236, HG00589, NA18945, HG01149, NA18606, NA19777, NA12891, NA20581, HG00427, HG01137, NA18597, NA20537, HG00590, NA18552, NA19138, NA19376, NA20534, HG00443, NA18599, NA18907, NA18909, NA18567, NA19391, HG01334, NA20332, HG00650, NA18867, NA19394, NA19403, HG00138, HG00663, NA19116, NA18989, HG00580, HG00118, HG00448, NA19818, NA18577, NA19446, HG01390, NA12878, NA20507, NA20513, NA11830, NA11992, NA12003, HG00123, HG00281, HG00285, NA19327, NA12399, NA20812, NA12842, HG01366, NA18571, HG00422, NA18924, NA19371, HG00708, NA19198, HG01108, NA18610, NA19070, NA19470, NA18984, NA20792, HG01125, NA11829, NA19130, HG01177, NA19240, NA19346, NA20768, HG00119, HG00320, HG01498, HG00275, HG00324, HG00690, NA12717, NA18532, NA18549, HG00183, HG00442, HG01374, HG00473, NA19350, HG00137, HG01102, HG01462, NA18908, NA19079, NA19381, NA20804, HG00684, HG01377, NA19758, HG00336, HG00476, HG00671, HG00345, NA19092, HG00271, HG00278, NA19779, NA18519, NA12775, HG00323, NA20281, NA12827, NA18964, NA12718, HG00313, NA12043, HG01518, NA18861, HG00318, HG00536, HG00607, NA12748, HG00344, HG01072, NA20785, HG01052, HG01075, HG01055, NA18874, NA18612, HG00731, NA19401, HG00449, HG00310, NA18570, HG00707, NA06989, NA20294, NA20802, NA18948, HG00117, HG01492, NA20816, HG00375, HG00326, HG01491, NA18573, NA18608, NA18542, HG00701, HG01188, HG01204, NA19648, HG00651, HG00557, HG00578, HG00331, HG00146, NA19084, NA18873, NA19147, HG00479, NA19654, NA20586, HG01133, HG01521, HG00256, HG00342, NA20532, HG00543, HG00154, NA18559, HG00321, HG00339, NA19914, NA20761, NA19428, NA20585, NA19383, NA20533, HG00250, NA19054, NA19059, NA20819, NA20515, HG00583, NA18566, HG00337, HG00689, NA20754, NA18856, NA19397
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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