A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673256



Internal ID9592675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53958462..53963168hg38UCSC Ensembl
Outerchr19:53957891..53963638hg38UCSC Ensembl
Innerchr19:54461716..54466422hg19UCSC Ensembl
Outerchr19:54461145..54466892hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385748
hg195748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e199
Supporting Variantsessv6413107, essv5431169, essv6009586, essv5562518, essv6045116, essv6036441, essv6582390, essv6544204, essv5564887, essv5409484, essv5709830, essv5800297, essv5646926, essv5745000, essv6003515, essv6525830, essv6213066, essv5984722, essv5531256, essv5602749, essv6344556, essv5993686, essv5597948, essv5530610, essv6401103, essv6032704, essv6389023, essv6159493, essv6025510, essv5627692, essv6353738, essv5963457, essv5893925, essv6446534, essv5638207, essv5655249, essv6192860, essv6069508, essv5903506, essv6184869, essv5836572, essv5705912, essv5939581, essv5863989, essv6140923, essv6050691, essv6309998, essv6189185, essv5647037, essv6036263, essv5461907, essv6322834, essv6004172, essv5444956, essv6046582, essv5512770, essv5882099, essv6589549, essv5929987, essv5876247, essv5499364, essv6202226, essv5973219, essv5784681, essv6593445, essv6192805, essv6136032, essv5612762, essv6040690, essv5972029, essv6200222, essv6312712, essv5647956, essv6467238, essv6487344, essv5922958, essv6577222, essv6324896, essv6342187, essv6577391, essv6538524, essv6479410, essv6322569, essv6500648, essv6486142, essv6255830, essv6217702, essv6414865, essv6265025, essv5539789, essv5965770, essv5485749, essv6495390, essv5964683, essv5655509, essv5907895, essv6567158, essv6565695, essv6038789, essv5860986, essv6359112, essv6308506, essv6097220, essv6016788, essv6534176, essv6140562, essv5949572, essv5546345, essv6204972, essv5796577, essv6499706, essv6132783, essv5958589, essv5823384, essv6320373, essv6130606, essv6389502, essv5626554, essv6286676, essv6503010, essv5790537, essv5477732, essv6176216, essv5836370, essv6572427, essv6475564, essv5589434, essv6203027, essv5692916, essv5534364, essv6451704, essv6468018, essv5419869, essv6440877, essv5473928, essv6157668, essv6103859, essv5798723, essv5568783, essv6596769, essv5427279, essv6515849, essv5403301, essv6111554, essv6408862, essv5851459, essv6435656, essv6090064, essv5925625, essv5904451, essv5850002, essv6053366, essv6098466, essv5558201, essv6525533, essv5937555, essv5664950, essv6053351, essv5756801, essv5397258, essv6086276, essv6463660, essv5467579, essv5417449, essv6020931, essv5859795, essv6007353, essv5778639, essv6231629, essv5870363, essv6426462, essv6266301, essv6404069, essv6425483, essv5809614, essv5687862, essv5595529, essv5896172, essv6056904, essv6028737, essv6214630, essv6506868, essv6288939, essv6267641, essv5755029, essv6519624, essv5862521, essv6507495, essv6129670, essv6302671, essv6273936, essv6554851, essv6264259, essv6591519, essv6483656, essv6189356, essv6213221, essv6534806, essv5727645, essv6241498, essv5593798, essv5458357, essv6497950, essv6563687, essv6178816, essv6062181, essv5825135, essv5867796, essv5569107, essv5448717, essv5915720, essv5678233, essv5553676, essv6538648, essv6536565, essv6007777, essv5696696, essv5645581, essv6355081, essv5765814, essv5538527, essv6490153, essv6432388, essv6141642, essv5731313, essv6372277, essv6037121, essv5906181, essv5451510, essv5634480, essv6388140, essv5508708, essv6445120, essv5931369, essv5743074, essv6233824, essv6172901, essv6215732, essv6139838, essv5462059, essv6589033, essv5851436, essv5460036, essv6243476, essv5564485, essv5465293, essv6401545, essv6470989, essv6580292, essv5942843, essv5497753, essv5872067, essv5442030, essv5768993, essv5835736, essv6363697, essv5617610, essv5683938, essv5795705, essv5685312, essv6553321, essv5397449, essv5861599, essv6078929, essv5688467, essv5895559, essv6105673, essv5640825, essv6487493, essv5412104, essv5911075, essv5537914, essv6450970, essv6190533, essv5693746, essv5948055, essv5556231, essv5505511, essv6214258, essv5762012, essv6175783, essv5820216, essv5658522, essv6281546, essv6141444, essv5430361, essv6544008, essv6452494, essv6083100, essv5959409, essv5594738, essv5818041, essv5591187, essv6345969, essv6423020, essv6177369, essv6368756, essv5476440, essv6561272, essv6242896, essv5768214, essv6134716, essv6133001, essv5754950, essv5523970, essv6051637, essv5926479, essv5946947, essv6340288, essv6471628, essv6069687, essv6139478, essv5522057, essv5786788, essv6529722, essv6013252, essv6112293, essv6111140, essv5539234, essv6263158, essv5551565, essv5865006, essv5519886, essv5987619, essv5817674, essv6533485, essv6006885, essv5447904, essv6387487, essv5757168, essv5643789, essv6503437, essv5977085, essv6230249, essv5823701, essv6215299, essv5557789, essv6210726, essv6238486, essv5412543, essv5992461, essv6375799, essv6590318, essv6332736, essv6258739, essv6300014, essv6362523, essv6570479, essv5950696, essv5688627, essv5992171, essv5566007, essv5574642, essv5943409, essv6170585, essv5695765, essv5779211, essv6177739, essv5671676, essv5522166, essv5881355, essv5900801, essv5616527, essv6513188, essv6126719, essv6572021, essv5401784, essv5844167, essv5610865, essv6036953, essv6479977, essv6270754, essv5741251, essv5809227, essv5715166, essv6192557, essv5775322, essv6478850, essv6001421, essv5881240, essv6380941, essv6263068, essv6169919, essv5840048, essv6511681, essv5449804, essv6181460, essv5554454, essv6453510, essv5396902, essv6223973, essv5815279, essv6045740, essv6153055, essv5642686, essv5512106, essv5711345, essv5624631, essv5881360, essv6220114, essv5552864, essv6518386, essv6300659, essv5775812, essv5581096, essv5496444, essv6053088, essv5497594, essv6131129, essv5697878, essv6489812, essv6396037, essv5526077, essv6220065, essv5894999, essv5782415, essv5871826, essv5534293, essv6093828, essv6078105
SamplesNA20509, NA20588, NA19394, HG00189, NA19701, NA20761, HG00650, HG00542, HG00442, NA19058, NA19703, HG01462, HG00608, NA19909, NA20766, NA18947, NA20508, HG00671, NA19066, HG00559, NA19399, NA20783, HG00315, NA18999, NA19350, HG00181, NA19359, NA20294, NA19355, NA19377, NA18959, HG00449, HG01461, HG00654, NA19443, NA19920, NA20771, HG00693, NA18988, HG00337, HG00271, HG00663, NA20814, NA19446, NA19373, HG01350, NA19379, NA18940, HG00589, HG00272, NA20589, HG01351, NA20756, HG01492, NA19457, HG01365, HG00334, NA20287, HG00185, NA19904, NA19384, HG00537, NA19079, NA18949, HG00512, HG00281, NA20539, NA20518, HG00335, NA20775, NA20812, HG00325, NA19372, HG00534, HG00705, NA18990, NA18985, HG00326, NA20757, HG00323, NA20515, NA19921, NA20753, HG01124, HG00443, HG00268, HG00282, NA19056, NA19403, HG00557, NA20521, HG00657, NA20810, HG00368, NA19455, HG00556, HG00583, HG00344, NA19081, HG00275, NA20519, HG01149, NA18948, NA18981, HG00692, HG00324, HG00284, NA19461, HG00651, NA19084, HG00690, HG00404, HG00531, HG00479, NA20581, HG00331, HG00684, NA19453, NA19059, NA19009, NA19452, NA18963, HG00704, HG00463, NA19469, NA19395, NA19625, NA19012, NA18974, HG01148, NA19375, NA19003, HG00611, NA19440, NA19390, HG00336, HG00625, NA19712, NA19434, HG00353, NA20815, NA19072, HG00580, NA19444, NA19331, NA19010, NA20790, NA20530, NA20527, HG01375, NA19835, HG00473, NA20792, NA20778, NA19470, NA19428, NA19311, NA20544, HG01137, NA19083, NA18943, NA19360, HG00662, HG00418, HG01489, HG01342, HG00620, HG00339, HG00614, HG00513, HG00478, HG00342, NA19468, NA19474, NA20510, HG00310, HG00280, NA19080, NA20826, NA19711, NA19900, NA18983, HG00377, HG00274, NA20503, HG00595, NA20502, NA19430, NA18989, NA19316, NA19312, HG01125, HG00628, HG00171, NA19463, NA20585, NA19063, NA19065, NA20754, NA19429, NA19074, HG01437, HG00581, NA19431, NA20772, HG00626, HG00403, HG01441, NA19700, HG01356, NA20543, NA19055, HG00536, NA19397, NA19466, HG00361, HG01359, HG00524, NA19914, HG00187, NA19332, NA18980, NA19704, NA20531, HG01389, HG01374, NA20813, NA20532, HG00367, HG00318, HG01465, HG00699, NA19819, NA20805, HG00566, HG00179, NA20507, HG01140, HG00327, NA20537, NA18967, NA19374, NA19068, NA19396, NA19381, NA19076, NA18944, HG01366, HG00501, NA19382, NA19448, HG01488, HG00702, HG00689, HG00448, NA20586, HG00173, NA18982, NA19916, HG00634, NA18942, HG00610, HG00346, HG01354, NA20540, NA19313, NA19088, NA19054, HG00369, HG00270, HG00590, NA20541, NA19404, HG01134, HG00277, NA19383, HG00683, NA18977, NA19917, NA19371, NA19075, NA19385, HG00422, NA19471, NA18986, NA19087, HG01440, HG00309, HG00182, NA19002, HG00427, NA20811, NA19901, HG00338, NA19456, NA19445, NA18975, HG00178, NA20533, HG00530, HG00419, NA19451, HG00464, NA20818, NA19007, HG01353, HG00543, HG00313, HG01136, HG00188, HG00629, NA19437, HG00183, HG00176, NA19082, NA19707, HG00596, HG01384, HG00328, NA19077, HG00428, NA19462, NA19347, HG00190, NA20809, HG00653, NA18956, HG00701, NA20536, NA19391, HG00475, HG00436, NA19982, HG00320, HG00584, HG00533, HG00500, NA20126, NA18976, HG00619, HG00708, HG00635, HG01390, HG00273, NA19000, NA19449, HG00373, NA20538, HG01383, HG00613, HG00525, HG00321, NA19338, HG00276, NA20828, NA20542, NA20534, NA19436, NA20765, NA19401, HG00476, NA20522, HG00285, NA19834, NA18961, NA18952, HG00565, HG00366, NA19473, NA18950, HG00375, HG00357, NA19435, NA18941, NA20804, HG00278, NA20785, NA19334, HG00607, NA19439, NA19467, HG00319, NA20803, NA20797, NA19085, HG00269, NA19818, NA19376, NA19398, NA19078, HG00707, HG00672, HG00578, NA18971, HG01491, HG00312, NA19438, NA20582, NA19472, NA19060, HG00421, HG00329, NA18987, HG00656, NA19713, HG00174, HG00186, NA20807, HG00698, HG00343, NA20528, HG00372, HG01377, HG00472, HG01378, NA19004, HG00345, HG01112, HG00180, HG00437
Known GenesCACNG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673256
Frequency
Sample Size1151
Observed Gain0
Observed Loss420
Observed Complex0
Frequencyn/a


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