A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675634



Internal ID9595053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54942508..54942752hg38UCSC Ensembl
chr4:55808674..55808918hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5913799, essv5834647, essv5971621, essv5814631, essv5633309, essv6379058, essv6427391, essv5810374, essv5701976, essv5468944, essv5581376, essv6545030, essv6009965, essv6417570, essv5776828, essv5515062, essv6527927, essv5900318, essv6524671, essv5639645, essv5652981, essv6074371, essv5845866, essv5915828, essv5711782, essv6308666, essv5602658, essv6282837, essv5428999, essv5529935, essv5887418, essv5788880, essv5775502, essv6505297, essv5888338, essv6405307, essv5955094, essv5562627, essv6364887, essv6088376, essv6472877, essv5500839, essv5737008, essv5407285, essv6417765, essv5612601, essv5701063, essv5531694, essv6096267, essv6582998, essv5887878, essv5732925, essv5502706, essv6204158, essv5606060, essv5584540, essv6141497, essv5706153, essv6283425, essv5814699, essv5952581, essv5556799, essv5494755, essv5971004, essv5935932, essv5745408, essv5835969, essv6033552, essv6036484, essv6303324, essv5593450, essv6460282, essv6512375, essv5712571, essv6063707, essv6379825, essv5906201, essv5933151, essv6570579, essv5584724, essv5917916, essv6333585, essv5784453, essv5819303, essv5790570, essv5600397, essv5534920, essv5473555, essv5974737, essv5772451, essv5746056, essv6009163, essv5828324, essv6313951, essv6185600, essv6213609, essv6299040, essv5770476, essv6203548, essv5421527, essv6205438, essv5670424, essv6048741, essv6503141, essv5972188, essv6055957, essv5655156, essv6168785, essv5691591, essv6293407, essv6475382, essv5984690, essv6507886, essv6452679, essv6166373, essv6575151, essv5907331, essv6050263, essv6571172, essv5451952, essv6107118, essv5967648, essv6337968, essv5515382, essv5934687, essv5424105, essv5875817, essv5779100, essv5774052, essv6111772, essv5503190, essv6531102, essv6018263, essv5917057, essv6542678, essv6383323, essv6390104, essv6040359, essv5606995, essv5930301, essv5549237, essv5634369, essv6447336, essv6008007, essv6552037, essv6011819, essv5730376, essv6109481, essv5590439, essv6559688, essv6138846, essv6216993, essv5869936, essv6176581, essv5576881, essv6523393, essv6284311, essv6098469, essv5566652, essv5721421, essv5729430, essv6411245, essv6398187, essv6462842, essv6499265, essv5666106, essv5695739, essv5647278, essv5723405, essv6008340, essv6339080, essv6429306, essv6439699, essv5971246, essv5429312, essv6159737, essv6143271, essv5959674, essv5580564, essv5743367, essv5590576, essv6527042, essv5827924, essv5481704, essv6097931, essv6142324, essv5926297, essv6419971, essv5788440, essv5812950, essv5738859, essv5956798, essv6114180, essv6343775, essv5491822, essv5943286, essv6502880, essv5556934, essv5449523, essv5414504, essv6297375, essv5838976, essv6162877, essv5731519, essv5478930, essv6369999, essv6573108, essv6385096, essv6429227, essv6214383, essv6106926, essv6144539, essv5555259, essv6211670, essv5990090, essv5654899, essv6580526, essv5867289, essv5415403, essv6200007, essv5754200, essv5745708, essv6057394, essv5532556, essv6270174, essv6353549, essv5969232, essv5767823, essv5405992, essv6277975, essv6037140, essv6511723, essv5627660, essv6594451, essv5805906, essv5899167, essv5415884, essv6276507, essv6078783, essv6213088, essv5776746, essv5931333, essv6016652, essv5881185, essv5934647, essv5626127, essv6312730, essv6251745, essv5680139, essv5704256, essv6419307, essv5526469, essv6596347, essv5605786, essv6075394, essv5651969, essv5594587, essv6338618, essv5486822, essv5752105, essv5504392, essv5815708, essv6049368, essv6588618, essv6527862, essv5966784, essv5610532, essv5617851, essv5510915, essv5616475, essv5668833, essv5429035, essv6049952, essv6592049, essv5905135, essv5787099, essv6436103, essv6267716, essv6434858, essv6057822, essv5683294, essv6103556, essv5997949, essv5932627, essv6387885, essv5399868, essv6076880, essv6385152, essv6501543, essv6566379, essv6054267, essv5567559, essv5660026, essv6591624, essv6122723, essv6076486, essv6583204, essv6418999, essv6242363, essv5999538, essv6220027, essv5681784, essv6035089, essv6585454, essv5607412, essv5532566, essv5557560, essv5960311, essv5978707, essv6330451, essv6345838, essv6466206, essv6228128, essv5830043, essv6400509, essv5680046, essv5458817, essv5716249, essv6251566, essv6417309, essv5473731, essv6578320, essv6285524, essv6046503, essv5833097, essv5528017, essv6314304, essv6344444, essv6236433, essv6047824, essv5529762, essv5410894, essv5787869, essv6463590, essv6299181, essv6117946, essv6187573, essv5739524, essv6565310, essv5890964, essv5926798, essv6310228, essv5588082, essv5526433, essv5561161, essv6514327, essv6501375, essv6096467, essv5920458, essv6320101, essv5465175, essv6517978, essv5423030, essv6393479, essv5862786, essv6513479, essv6125897, essv5813871, essv6483949, essv6367121, essv5868152, essv6412822, essv5851010, essv5638968, essv6553030, essv5514171, essv5985150, essv5723069, essv6276454, essv5874920, essv5885022, essv5983634, essv5631373, essv6371996, essv5770507, essv5687867, essv6408314, essv5649687, essv5456809, essv5416393, essv6494357, essv5645162, essv6170049, essv5457020, essv5791433, essv6301940, essv6159896, essv6232912, essv6566224, essv6557741, essv6321151, essv5530210, essv6184645, essv6095042, essv6100097, essv6264431, essv5660768, essv5879732, essv5815356, essv5441371, essv6471145, essv6072886, essv6346758, essv5456614, essv5404413, essv6131422, essv5900748, essv6536881, essv6361961, essv6285168, essv6338482, essv5630632, essv6448673, essv6125655, essv6474393, essv5974898, essv5434416, essv5741466, essv5946052, essv6162000, essv5927431, essv6207044, essv6590661, essv5820564, essv6346076, essv5787391, essv6507451, essv6542478, essv6419498, essv6408609, essv5991003, essv5439052, essv5495148, essv5485901, essv6376573, essv6241090, essv5674332, essv6478652, essv5709023, essv5535189, essv6071409, essv6437245, essv6496161, essv5569390, essv6171663, essv6150488, essv5575024, essv6261903, essv6110958, essv6523856, essv6244534, essv5917940, essv6226878, essv5498075, essv6543603, essv6219453, essv5821345, essv6312373, essv6504748, essv6259604, essv6064874, essv6562733, essv6505280, essv6069750, essv5817162, essv5524726, essv6025352, essv6037716, essv5417728, essv6233380, essv6597440, essv6385615, essv5827968, essv6456949, essv6063679, essv6450883, essv6089331, essv6463296, essv6179955, essv6002730, essv6068023, essv5978512, essv6354568, essv5946391, essv5576533, essv5431342, essv6507837, essv5781998, essv5652239, essv6339573, essv6315346, essv5637381, essv6333566, essv6330341, essv6394265, essv6093356, essv5618843, essv6076601, essv6391118, essv6114855, essv6520962, essv6079212, essv6455359, essv6200073, essv6189381, essv6042351, essv5840596, essv6268637, essv6019083, essv5538477, essv5744100, essv6588361, essv6437515, essv6502906, essv6500988, essv5525819, essv5681506, essv5692524, essv5687463, essv5398173, essv5644074, essv5624693, essv5490111, essv6571035, essv6490244, essv5896928, essv5492099, essv6484900, essv5917084, essv6462259, essv6552943, essv6395815, essv5490696, essv5749860
SamplesNA18502, HG00189, HG00650, HG00442, HG00608, NA19664, NA19399, NA12414, NA11920, NA11931, HG00257, NA12751, HG00153, NA18504, NA19684, NA19377, NA18530, HG01518, HG01461, NA12750, HG00337, NA19446, NA19171, HG01350, NA19379, HG00589, NA19678, NA20795, HG01492, NA18960, NA18916, NA20768, HG01083, HG01365, NA19384, HG00537, NA20291, HG00158, HG00281, HG00139, NA20759, HG00335, NA18868, NA19238, NA19239, NA18985, HG00326, HG00323, NA18867, HG01550, NA19789, NA19921, HG00137, NA12777, NA18605, NA19070, NA12878, HG01095, NA19717, NA19663, HG01498, NA18572, NA18907, HG01047, HG00404, NA19750, NA18532, NA06989, NA19059, HG01334, NA19009, NA19452, NA19682, NA18523, HG00463, NA19395, HG00126, NA19625, HG01107, NA19729, NA19652, NA19256, NA18517, NA19712, NA19434, NA19331, NA12763, HG00662, HG01342, NA19328, HG00614, NA19785, NA19223, NA19779, NA19102, NA18873, NA19770, NA20826, HG00274, NA20503, NA19129, HG00628, NA18612, NA18487, HG01437, HG00593, HG01441, NA19648, NA19700, NA19397, NA18924, NA19466, NA11995, HG01359, HG01052, NA18980, HG01079, NA19704, NA18507, HG01188, NA18599, HG01389, HG01374, NA18603, NA12045, NA19092, HG00699, NA12004, NA20507, NA19190, NA19098, NA19068, HG01250, NA19746, NA19660, NA18489, NA19728, NA19723, NA18635, NA19916, NA20769, NA19131, NA18942, HG00736, NA19197, HG01354, NA19313, NA19054, NA18498, NA20513, NA12761, HG01134, NA12005, NA19651, HG00106, HG00236, NA19371, NA18560, HG01176, NA12889, NA19159, NA19725, NA19189, NA18520, HG00637, NA19209, NA12828, NA18908, NA18973, NA19451, NA18638, NA12748, HG00464, HG00108, NA19007, HG01136, HG00188, HG00560, NA19247, NA18613, HG00629, NA19657, HG01360, NA19707, HG01384, NA19462, NA20809, NA19391, NA19327, NA18991, NA19982, HG00500, NA19788, NA18910, NA19776, HG01094, NA19000, NA19655, HG00373, NA18499, HG01383, NA12892, NA18853, NA19225, NA19756, NA19160, NA18576, NA20296, NA19685, NA19401, NA19108, NA18952, NA18543, NA18559, NA12775, NA19749, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, HG00607, NA19786, HG00319, HG01108, NA20803, HG00125, NA19759, NA19376, NA19078, HG00707, HG00672, NA19248, HG00329, NA18987, NA12749, NA12830, NA19726, HG00343, HG01377, NA18505, HG01097, NA18549, HG01191, HG00437, NA19153, NA19394, NA12717, NA19703, HG01462, NA19909, NA20766, HG00671, NA19066, NA19204, NA18861, NA18508, NA18565, HG01066, NA20752, NA19350, NA19359, NA20294, NA19355, NA18616, HG00449, NA20517, HG01051, NA20356, HG00261, NA18602, HG00693, HG00271, NA19107, HG00663, NA07346, NA19373, NA18940, NA18519, NA18597, HG01351, NA20774, HG01168, NA18923, NA19457, NA18571, HG00334, NA19130, NA11930, NA20539, HG01069, HG01080, NA20278, NA12156, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, NA19235, NA19207, NA19722, NA18990, HG01198, HG01048, HG00253, HG01124, HG00154, NA19908, HG00443, HG01171, HG00380, HG00282, NA19403, HG00557, NA18933, HG00732, NA19455, NA20314, HG00556, HG00263, HG00275, NA18871, HG01149, NA19654, HG00324, HG00284, NA11919, HG00250, HG00531, HG00479, HG00684, NA18912, HG01101, HG01497, NA19099, NA19761, NA18555, NA18963, HG00704, NA19469, HG00246, NA18570, NA18858, NA12546, HG01075, NA19012, HG01148, NA19375, HG00258, HG00155, HG00254, NA19390, NA19147, HG00625, NA19747, NA20815, NA19072, HG01551, NA20527, HG01375, HG00473, NA20778, HG00237, NA19324, NA19311, HG01113, HG01137, NA19783, NA18610, HG01489, HG00620, HG00339, NA18501, HG00259, NA19093, HG00310, HG00280, NA19116, NA19900, NA20502, NA19312, HG01125, NA12890, NA12006, NA19463, NA18623, NA19063, NA12154, NA19676, NA18620, HG01516, NA11830, HG01356, HG00536, NA11829, HG00524, NA19332, NA20531, NA18917, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA19057, HG01456, NA18606, NA18870, NA12155, HG01140, HG00327, NA19396, NA19381, NA20796, NA18944, HG01366, HG01070, NA19382, NA19762, HG01488, HG00448, NA18982, NA19198, NA12891, NA11992, NA12283, NA19771, NA19088, NA19138, NA19782, NA18964, NA19404, HG01455, HG01067, HG01495, NA19917, NA19137, NA19731, NA19385, HG00422, HG01440, HG00309, HG00159, NA19456, NA19445, NA19200, HG00264, NA11993, HG00260, NA11831, NA10847, HG00313, HG01183, NA18544, NA19210, HG01187, NA18934, HG00328, NA20505, NA12003, NA19152, HG00577, NA19236, NA18516, HG00320, NA18637, HG00619, HG00708, HG01390, NA18566, HG01073, NA19114, NA20299, NA19774, NA19449, NA11894, NA18856, HG00117, HG00613, HG00525, NA12827, NA19257, HG00276, NA20534, NA19675, NA18945, HG01204, NA19436, NA18546, NA18608, NA20522, NA18909, HG00285, NA19321, NA18961, NA19473, NA19435, NA18941, NA19240, NA19773, NA19380, HG01494, NA20516, NA07037, NA06986, HG00111, NA20348, HG01491, HG00421, HG01254, HG01055, HG00123, HG00698, HG00131, NA19213, NA20528, HG01251, NA19661, HG01378, NA19755, NA18488, HG01082, NA19758, NA18511, NA07000, HG01112, NA18622, HG01061, NA12776, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675634
Frequency
Sample Size1151
Observed Gain0
Observed Loss534
Observed Complex0
Frequencyn/a


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