A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675868



Internal ID9941973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130838503..130840492hg38UCSC Ensembl
chr8:131850749..131852738hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381990
hg191990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6129119, essv6050168, essv6262285, essv6102127, essv6230164, essv6388184, essv6584543, essv6462518, essv5419685, essv6134889, essv6131633, essv5402524, essv6348410, essv6373817, essv5817404, essv6426365, essv6514699, essv5963507, essv6384184, essv6454005, essv5987296, essv5811311, essv6291188, essv5488532, essv5720766, essv5827846, essv6120281, essv5397606, essv5617866, essv6528935, essv5584863, essv6110296, essv6259312, essv6237272, essv5697923, essv6459694, essv5718052, essv6527955, essv6247406, essv5544051, essv5987947, essv5598965, essv6587469, essv6456074, essv6067775, essv5463046, essv6531523, essv6155708, essv5958392, essv6519272, essv6491426, essv6075330, essv5873010, essv5980247, essv6074578, essv5653270, essv5805556, essv5414569, essv5917744, essv6243816, essv6036137, essv6224522, essv5575372, essv5665163, essv5690843, essv5984814, essv6225635, essv5411519, essv6429370, essv5566483, essv5963872, essv5676206, essv5506522, essv6070155, essv5915138, essv6279614, essv6560828, essv5894656, essv5943967, essv5786966, essv6519424, essv5826450, essv5457216, essv6137085, essv6286392, essv6587081, essv5696637, essv5841455, essv6153226, essv6536608, essv5630619, essv5891156, essv5989622, essv6177625, essv6040069, essv6570965, essv6152087, essv5717015, essv6343475, essv6107376, essv6187721, essv6498499, essv5402884, essv6577569, essv5484625, essv5911971, essv5809377, essv5551666, essv5661670, essv6013935, essv6215302, essv6307295, essv5911748, essv6131214, essv5854772, essv5815131, essv5608574, essv5790706, essv5710935, essv6129780, essv5923364, essv6298221, essv6184436, essv5518343, essv5847561, essv6421573, essv6129709, essv5832006, essv6019289, essv6265425, essv6375845, essv6482848, essv5417979, essv6076484, essv5590824, essv5497212, essv5863442, essv6114525, essv5944336, essv6531261, essv5428366, essv5474011, essv6067898, essv6141485, essv6405337, essv6108959, essv6426588, essv6060433, essv6089054, essv5570368, essv6255404, essv6001795, essv6547920, essv5691804, essv5625993, essv5887399, essv6177786, essv6044635, essv6439434, essv6229616, essv5844586, essv6575217, essv5485077, essv6176517, essv6004065, essv5957514, essv5938841, essv5697435, essv5718132, essv5774614, essv5657843, essv6450753, essv6378018, essv5631130, essv5739615, essv5853789, essv5991426, essv6079925, essv6059911, essv6510813, essv5578096, essv5911548, essv5399391, essv6104176, essv6361948, essv5757341, essv5694855, essv6251022, essv6324551, essv6091460, essv5967080, essv5428416, essv6099246, essv6553489, essv5845320, essv5946414, essv5543378, essv6562886, essv5810381, essv6433047, essv5757660, essv6334564, essv5557114, essv6128689, essv6108555, essv5643662, essv5693659, essv6115129, essv6089460, essv6040096, essv6067276, essv5615029, essv5821990, essv6055017, essv6063321, essv5584216, essv6377643, essv6346364, essv5781631, essv6468552, essv6052130, essv6264034, essv5736459, essv5477588, essv5732285, essv6332355, essv6175482, essv5535699, essv5856388, essv5400044, essv5614263, essv5926483, essv6287566, essv6064402, essv6376579, essv5727385, essv5854303, essv5397460, essv5924949, essv6262038, essv5530423, essv6016660, essv6403369, essv5767709, essv6346331, essv6162444, essv6011418, essv6353083, essv5964651, essv5622250, essv6391917, essv5427260, essv6366440, essv6307170, essv5419001, essv6116478, essv5397187, essv6461993, essv5816476, essv5532981, essv6216814, essv5784638, essv6492234, essv6460806, essv5919082, essv6284731, essv5947216, essv6251687, essv6015076, essv6347367, essv5483590, essv6472567, essv5685306, essv5796430, essv6023106, essv6297494, essv6016001, essv6418256, essv6308906, essv6502963, essv6302727, essv6517745, essv6131694, essv5429795, essv6152173, essv5759204, essv5712660, essv6359076, essv5428626, essv5973564, essv6307235, essv5794508, essv5782690, essv6345095, essv6083466, essv6361978, essv6340337, essv5415615, essv5584912, essv6315256, essv5656543, essv5742260, essv5728418, essv5856506, essv5558127, essv5470173, essv6427289, essv5696899, essv6415592, essv5679391, essv6343550, essv5502893, essv5795528, essv5630773, essv5745402, essv5955730, essv6554872, essv6469827, essv6380627, essv5754063, essv5619832, essv5852545, essv6302976, essv5414586, essv5559574, essv6492754, essv6389378, essv5786048, essv6047908, essv6516418, essv5821760, essv5640808, essv6387690, essv5442461, essv6400402, essv6381204, essv5940320, essv6425758, essv5491270, essv5898559, essv6496246, essv5815234, essv6303387, essv5552789, essv6295251, essv6153697, essv5995937, essv5596209
SamplesHG00650, HG00542, NA12717, HG00442, NA19058, NA20529, NA12842, HG01462, HG00608, NA18621, NA20766, NA19066, NA10851, NA18565, NA12414, NA12843, NA11920, NA18999, NA20802, NA20512, NA12751, NA19684, HG00737, NA18616, HG01051, NA18633, HG00261, NA12750, NA18602, NA18988, NA18627, HG00271, HG00663, NA20814, HG00641, HG01350, HG00272, HG00122, NA18597, NA19678, HG01167, NA18618, NA19062, NA18574, NA07048, NA07347, NA18571, HG01365, HG00334, HG00311, NA20291, NA18949, HG00158, NA11930, NA20759, NA19720, NA20518, HG00156, NA11932, NA11994, HG00534, HG00705, NA19722, HG00160, HG00118, HG01198, NA18557, HG01133, HG00326, NA20757, NA19789, HG01124, HG00154, NA18605, NA20535, NA12760, HG00268, HG00282, NA19070, NA19403, HG00557, NA12878, NA20810, NA20760, NA20314, NA19663, HG00275, NA18579, NA12718, NA20519, NA18572, HG01149, NA18534, HG00239, HG00692, NA18548, HG00740, NA18537, HG01047, HG00284, NA18573, HG00250, HG00531, HG00479, NA19750, NA06989, HG00140, HG01497, NA19059, NA19761, HG00152, HG00146, NA12778, HG00126, NA19625, NA18593, NA18541, NA19012, HG01148, NA19003, HG00258, NA19729, NA18632, NA19652, HG00155, NA18533, HG00336, HG00265, HG00353, NA20815, NA19072, NA12272, HG00734, NA20520, NA19010, NA20530, NA20527, HG01375, NA19835, HG00473, HG00237, HG01113, NA19083, NA19783, NA12763, HG00662, NA18615, NA18610, NA12347, HG00339, NA19785, HG00259, NA19779, HG00342, NA19716, HG00267, NA20510, NA20289, NA18609, HG00112, NA20826, NA19780, NA18983, HG00377, NA18989, HG01125, HG00628, NA18968, NA12006, NA18623, NA20754, NA19074, HG00553, NA18577, NA19676, NA18620, HG00626, HG01060, HG00114, HG01441, HG01521, HG01098, HG00536, HG00249, NA11995, NA11829, NA18592, HG00524, NA19332, NA18980, HG01079, NA18561, NA18599, HG01389, HG01374, NA20813, NA18603, NA12045, HG00640, HG00367, HG00318, HG00699, HG00103, NA12004, NA19777, HG01456, HG00566, NA12058, HG00179, HG00177, NA20507, NA12400, NA20537, NA19068, HG01250, NA19005, HG00251, HG00501, NA18595, HG01488, HG00689, HG00448, NA18982, NA18635, NA12891, HG00330, NA20769, NA12348, NA18942, HG00610, NA11992, NA12287, HG00247, NA19054, HG00270, NA19681, NA18964, NA20541, NA18611, HG01134, HG00106, NA06984, HG00236, NA19719, HG01072, NA20340, NA18560, HG00637, HG00159, NA12828, HG00178, HG00419, NA18638, HG00264, NA11993, HG00464, HG00260, NA20818, HG00543, HG01136, HG00560, NA19082, HG01187, NA20524, HG01384, HG00328, NA12342, HG00428, HG00653, NA18956, HG00701, NA20536, HG00475, HG00436, NA20126, NA18630, HG00635, NA18566, HG01094, HG00273, NA20299, NA19655, HG00373, NA11894, HG01383, NA12892, HG00117, HG00613, HG00276, NA06985, NA18536, NA18634, NA18546, NA18608, NA18542, NA12716, NA18535, NA18559, NA19749, HG00565, HG00366, NA18950, HG00375, HG00136, HG00638, NA20804, HG00278, NA20785, NA12046, NA20504, NA19786, HG00319, NA20803, NA20797, NA07037, NA19085, NA06986, NA19078, HG00707, HG00672, HG00111, HG01491, NA20582, NA19060, HG00421, HG00656, NA19713, HG01254, HG01055, HG00174, HG00186, HG00698, NA19726, HG01251, HG00372, HG01377, NA18984, HG01378, NA19755, NA19004, HG01082, NA07000, HG01097, NA18549, HG01191, NA18622, HG01061, NA20509
Known GenesADCY8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675868
Frequency
Sample Size1151
Observed Gain0
Observed Loss348
Observed Complex0
Frequencyn/a


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