A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672177



Internal ID9591596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168055321..168056494hg38UCSC Ensembl
chr1:168024559..168025732hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5552412, essv6324386, essv6514040, essv6324015, essv6328445, essv6327873, essv5447756, essv6111869, essv5901248, essv5598586, essv5703322, essv6110370, essv6135574, essv5510467, essv6038510, essv5655172, essv6065635, essv5420693, essv5538752, essv6282085, essv5831253, essv6092913, essv6335860, essv5511526, essv6515652, essv6244785, essv6319410, essv5993383, essv6385256, essv5604449, essv6524245, essv6259681, essv5674333, essv5432534, essv6250709, essv5666436, essv5408584, essv6211844, essv6425512, essv6250371, essv5565751, essv5475912, essv6444387, essv6371180, essv6321577, essv6130815, essv5468605, essv5915151, essv5989397, essv5702507, essv6119297, essv5608183, essv6553206, essv6581170, essv5613603, essv6249784, essv5878003, essv6275205, essv6371277, essv6173567, essv6249817, essv6456609, essv5538481, essv6062352, essv6093689, essv6120356, essv5541288, essv6506397, essv5667238, essv5957141, essv6430085, essv5665356, essv5720087, essv5448662, essv6270306, essv5504523, essv6039507, essv5609181, essv6153033, essv6278612, essv6536109, essv6336734, essv6447755, essv6209981, essv5749438, essv5641024, essv6291974, essv5519076, essv5978771, essv6589821, essv5774591, essv5541274, essv5403685, essv5711809, essv5854117, essv5628501, essv6113621, essv5736994, essv6413944, essv5658230, essv6089422, essv5812869, essv6244511, essv6376830, essv6306430, essv5539716, essv5593118, essv5855611, essv5696773, essv6010421, essv6072832, essv6356248, essv6057891, essv6365847, essv6140078, essv6535534, essv5683177, essv6248046, essv6175562, essv5948363, essv5838765, essv5629504, essv6570991, essv5652716, essv6223158, essv5690695, essv5992983, essv5904033, essv5640871, essv5427002, essv6525470, essv6135442, essv6448848, essv6435785, essv6379684, essv5672075, essv5906698, essv5909963, essv5873360, essv5921238, essv6577003, essv5789385, essv5586476, essv6133002, essv6388490, essv6451504, essv6157130, essv5852744, essv5712545, essv6347917, essv6180548, essv5690578, essv6470289, essv5863098, essv6309258, essv5523674, essv5631633, essv6532047, essv5957889, essv5420082, essv5412882, essv6344949, essv6179610, essv5531506, essv6014432, essv6585471, essv5805866, essv6075286, essv6439845, essv5902028, essv5821942, essv6223095, essv6300833, essv6059143, essv5424231, essv6105674, essv5765948, essv6095044, essv6167795, essv5605621, essv5638827, essv5660141, essv5784006, essv5999610, essv5705431, essv5631340, essv6154483, essv6252409, essv5878190, essv6578111, essv6291698, essv5937061, essv5421417, essv5783433, essv5497956, essv6302329, essv6305405, essv6058496, essv6229170, essv6410541, essv5733407, essv6425975, essv6515779, essv5736232, essv5703580, essv6016402, essv6132434, essv5711610, essv6150221, essv5837607, essv5468892, essv6176346, essv5516816, essv5883749, essv6527166, essv5752410, essv6167422, essv5791043, essv5907462, essv5550283, essv6211200, essv5714259, essv5558095, essv5522495, essv6577400, essv6320019, essv5778413, essv6143674, essv5465220, essv5849630, essv6422792, essv6090053, essv5826690, essv6446525, essv5567478, essv6463694, essv6401901, essv5684662, essv6089585, essv5457643, essv6364546, essv5551399, essv5604687, essv5588879, essv6057572, essv5734122, essv5625811, essv6072247, essv5970768, essv6107214, essv6482599, essv5758666, essv5581541, essv6091327, essv6043339, essv5762783, essv5697584, essv6306892, essv6571569, essv5548630, essv6165390, essv5901863, essv6177996, essv6051618, essv6448635, essv5485629, essv5734613, essv6542466, essv5807521, essv5912336, essv6258804, essv5741845, essv5769413, essv5736090, essv5660291, essv6306663, essv5571111, essv5655737, essv5582564, essv6285205, essv5553958, essv5719727, essv6316553, essv6581059, essv6479753, essv5475421, essv5896496, essv5692446, essv5570794, essv6005651, essv5745986, essv6067957, essv6111434, essv5540956, essv5432239, essv6406491, essv6043955, essv5816605, essv6337251, essv5738527, essv5546374, essv5861049, essv6223289, essv6048505, essv5726769, essv6271239, essv6498427, essv6592596, essv5500569, essv6109037, essv5505180, essv5977436, essv6354781, essv5912947, essv5695213, essv5396597, essv5980736, essv6344011, essv6022536, essv6548873, essv6284984, essv6123245, essv5962689, essv5680353, essv5665427, essv5849538, essv5674918, essv6158669, essv6553220, essv5629107, essv6259353, essv5461782, essv6132510, essv6056693, essv5715539, essv5563485, essv6032156, essv5612066, essv5413281, essv5891388, essv6054290, essv5840364, essv5756237, essv6231856, essv5916489, essv6326218, essv5541694, essv6090956, essv6130066, essv5474084, essv5859824, essv6305510, essv5591516, essv5699500, essv6415947, essv5826796, essv5829185, essv5629454, essv6145433, essv6511653, essv5660499, essv5524802, essv5570536, essv5856753, essv6398851, essv6512496, essv6416432, essv6218318, essv6088539, essv5835376, essv5688672, essv6132657, essv6142417, essv6236421, essv5991139, essv6144710, essv6182396, essv5899323, essv6101974, essv6122638, essv5967793, essv6469705, essv5405586, essv5444785, essv6162210, essv5496111, essv5911816, essv5761350, essv5611423, essv5767127, essv5673040, essv5865995, essv5777868, essv6491574, essv5905098, essv6586873, essv5660038, essv5921706, essv5722050, essv5447046, essv5752908, essv6288212, essv5813895, essv6079830, essv6556121, essv6174528, essv5976991, essv5571518, essv6268252, essv6195466, essv6053066, essv6553731, essv6488412, essv5961706, essv5626383, essv5914384, essv6071082, essv6428653, essv6130337, essv6508230, essv6056334, essv6484552, essv6418538, essv6274987, essv5556180, essv6491294, essv5987572, essv5631861, essv6042009, essv5740055, essv5989805, essv5724274, essv5559839, essv6208981, essv5754477, essv5647069, essv6019835, essv6463018, essv5972245, essv6116164, essv6455400, essv5888636, essv6110695, essv6228131, essv6201599, essv5515859, essv5914714, essv5438958, essv5887453, essv6470925, essv5637901, essv6018265, essv5922637, essv5676627, essv6370889, essv6139517, essv5755677, essv5795053, essv5853470, essv5481009, essv5500631, essv5847782, essv5613428, essv6025941, essv5956881, essv6415696, essv5794826, essv5631564, essv6248628, essv5930153, essv5667362, essv5627220, essv6160140, essv6028827, essv5481460, essv5846336, essv5454093, essv5703735, essv5605294, essv5422234, essv5579374, essv6115938, essv6106299, essv6398332, essv5561039, essv5504645, essv5883728, essv6140708, essv6166352, essv5581348, essv6568730, essv6441853, essv5810217, essv6467061, essv6544348, essv5746853, essv5418871, essv5615096, essv6240414, essv6594341, essv5756827, essv5508262, essv6315146, essv6194571, essv6342015, essv6495693, essv5987992, essv6399510, essv5565891, essv5469662, essv5446350, essv5591240, essv6582682, essv6256867, essv5996524, essv6297367, essv5738914, essv5772038, essv6406584, essv6133331, essv5697434, essv6042510, essv6231786, essv5835873, essv5977423, essv5853411, essv5966478, essv5746734
SamplesNA19207, NA18870, NA19248, HG01440, HG00257, NA19904, HG00619, NA18534, NA18530, NA18871, NA19081, NA19819, NA12342, HG00328, NA18523, NA19437, NA19114, HG00705, HG00500, HG01173, NA11920, HG00171, HG01083, HG00112, HG00464, NA12347, NA18501, NA19093, HG00131, NA20544, NA19311, NA11918, NA19469, NA20346, NA19435, NA10847, HG01389, NA19319, NA18516, NA19359, HG01051, HG01365, NA19334, HG00189, NA19788, NA19331, NA19453, NA20800, NA18953, NA18517, HG01174, HG00148, NA19920, HG01350, HG00139, NA18489, NA19144, NA18546, NA19379, NA12058, NA18507, NA20539, HG00683, HG00698, NA18963, HG00404, NA19651, HG00280, HG00335, HG01101, HG01168, NA19257, NA19682, NA19236, HG00319, NA20322, NA18505, NA19472, NA20755, NA12287, NA20803, HG00156, NA18950, HG01171, HG00353, NA18868, NA20340, HG00554, HG00592, HG01107, NA19463, HG00158, HG00242, NA11919, HG00346, HG01384, NA19239, NA19390, NA12004, NA19917, NA20811, NA19675, NA18622, NA19443, NA19471, HG01048, NA19107, NA19444, HG01061, NA20530, NA18617, NA18636, HG01124, NA12273, HG00315, NA12761, NA18956, NA19429, NA19908, HG00149, HG00338, NA18959, HG00533, NA18609, HG00125, NA18637, NA19075, NA20520, NA11995, NA18916, HG00174, HG00634, HG00276, HG01187, NA19700, HG00343, NA12144, NA19082, NA20341, NA19324, NA19728, NA12751, NA19190, NA19055, HG00306, HG00373, NA19247, NA19360, NA19725, NA19313, NA19380, NA19395, HG01097, NA07346, NA12716, HG01465, NA19129, NA19372, NA18633, HG00653, HG01191, NA19374, HG00640, NA12778, NA19384, NA19716, NA20790, NA18986, NA19102, NA20753, NA12275, NA18510, NA19119, NA19002, HG00265, HG00672, HG01170, HG00249, NA11892, HG00277, HG01080, HG01351, HG00740, NA20542, NA19720, NA20766, HG00525, NA18910, HG00377, NA19711, NA19789, NA19777, NA19235, NA12891, NA18619, NA12890, HG01137, NA18597, NA19921, HG01190, NA19376, NA19729, NA12272, HG01095, NA18909, NA19391, NA19723, NA19201, NA18538, NA19116, NA19431, NA20287, HG00118, NA19818, HG00654, HG01390, NA12878, NA20810, HG00123, NA19225, NA12546, HG00142, HG01366, NA19732, NA19371, NA20543, HG01108, NA20758, NA12045, NA11932, NA11829, NA19130, NA19756, NA19240, NA19346, HG00119, HG00320, HG00275, HG00690, NA19204, HG00473, NA18981, NA18908, HG00626, HG01377, NA19385, NA19779, HG00126, NA19466, NA19746, HG00531, HG01354, NA18553, HG00327, HG00323, NA19137, NA12043, NA19152, NA19445, NA19625, HG01359, NA12249, NA18861, NA19436, NA11930, NA07037, NA19321, HG00344, HG01072, HG01052, HG00100, HG01075, NA18933, NA19404, NA18975, HG00369, NA18612, HG00245, HG00596, NA19783, NA19401, HG00736, NA20508, NA18550, NA18570, NA19072, HG00261, NA19455, HG01098, NA20299, NA12340, NA18948, NA19430, NA19670, HG01492, NA19451, NA20816, NA20529, HG00375, NA19338, HG00326, NA20786, NA19782, HG00553, NA19461, HG00122, NA19210, NA19834, NA20588, NA12776, NA20314, HG00651, NA19678, HG00366, HG00578, HG00331, HG00146, NA18965, NA18488, NA19355, NA19474, NA12341, NA19467, HG01551, NA18873, NA19147, HG00188, NA19776, NA18632, NA20770, HG00244, HG00266, NA19762, NA20532, HG00115, HG00543, HG01254, HG00321, NA19726, NA19914, NA20761, NA19067, NA19383, NA19982, NA12843, NA20533, NA18624, NA18934, HG01140, NA18508, NA19054, NA19059, NA12282, NA20515, HG00472, HG00337, NA11994, NA19057, NA19660, NA18960, NA18618, NA07357, NA19900, NA19722, HG00610, HG00231, NA19396, NA20754, NA18856, HG00141, NA19397, HG00330, NA19398, NA19440, NA19066, NA11933, NA20541, HG00150, HG00178, HG00419, NA18547, HG00258, HG01136, NA18973, NA19835, NA20282, NA20336, HG00264, NA19773, NA19681, NA19056, NA19663, NA19679, HG00403, HG00357, NA18634, HG00237, NA19684, HG00133, NA19213, HG00436, NA19377, NA19153, HG00124, HG00108, NA19172, NA12892, NA18572, NA19703, HG00268, HG01066, NA19375, NA19393, NA18498, NA18923, NA20826, NA18486, NA18522, NA19238, HG00260, NA18502, HG00560, NA20540, HG01073, NA18558, NA18977, NA19098, NA19901, HG00273, HG00232, HG01176, NA18504, NA19704, NA20818, NA18487, NA18564, NA18858, NA20774, NA19332, NA19909, HG01070, NA19707, NA19131, NA19159, HG01060, NA19382, NA19318, NA18974, NA19462, NA18606, NA18543, NA10851, NA18999, NA18552, NA20534, NA18983, HG00443, NA18599, NA18907, HG00181, NA19078, HG00611, HG01334, HG00650, NA06984, NA18867, NA19394, NA19403, HG00663, HG00262, HG01112, NA19719, NA19434, HG00311, NA18602, NA18577, NA19099, NA19446, NA19452, NA20507, NA19063, NA12399, NA19399, NA19717, NA19160, NA19655, NA19916, NA19070, HG00367, HG00251, NA19171, NA18549, NA18853, HG01374, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, NA19473, HG00684, HG00143, HG01110, NA19758, HG00336, NA19448, HG00345, NA19092, NA19468, NA20519, HG00136, NA18519, NA19065, NA07000, NA18980, HG01067, NA19439, HG00361, HG01198, NA11881, HG00537, HG00252, NA07347, NA19712, NA18520, NA18595, NA20771
Known GenesDCAF6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672177
Frequency
Sample Size1151
Observed Gain0
Observed Loss528
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer