A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676089



Internal ID9595508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93822816..93825700hg38UCSC Ensembl
chr1:94288372..94291256hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382885
hg192885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5940496, essv5683961, essv6432846, essv5565652, essv6408218, essv5675665, essv6551272, essv5574048, essv6553210, essv5997914, essv5940385, essv6446363, essv5528529, essv5940287, essv6335784, essv6102364, essv6410562, essv6371102, essv5637180, essv5584329, essv6183033, essv6465987, essv5984274, essv6146944, essv5656013, essv6182776, essv6373574, essv6342238, essv5640206, essv5398480, essv6122003, essv6265550, essv5630012, essv6293082, essv6383801, essv5857550, essv5657997, essv6154908, essv6454323, essv6013703, essv5750366, essv6388221, essv6312195, essv5861591, essv6483605, essv5452365, essv5864199, essv5859879, essv6490530, essv5457594, essv5814115, essv6476293, essv6422255, essv5513854, essv6260816, essv5964195, essv5929481, essv6123641, essv5607070, essv5880229, essv5696711, essv5742714, essv5869309, essv5534181, essv6529254, essv6170086, essv6275885, essv5683639, essv6083725, essv6142529, essv6282962, essv5475443, essv6433996, essv6440512, essv6085362, essv5896736, essv6230275, essv6438779, essv5792424, essv5679914, essv5984835, essv5436776, essv5614233, essv6158481, essv5593986, essv5548389, essv5504187, essv6242566, essv6104651, essv6097425, essv6511393, essv5504996, essv5862693, essv6003872, essv6372170, essv5710829, essv6222803, essv6555304, essv5885808, essv6102634, essv6227104, essv5815495, essv5530463, essv5630273, essv6029062, essv6447317, essv6461212, essv5506132, essv5484630, essv5538810, essv6424492, essv6570282, essv5416179, essv5503475, essv6250301, essv5789496, essv6187729, essv6251088, essv6302260, essv6311863, essv6039655, essv6498510, essv6140753, essv5909500, essv6262753, essv6081367, essv6348317, essv6309535, essv6107669, essv6120276, essv5986617, essv5939996, essv6041767, essv6423658, essv5715383, essv6008530, essv5920589, essv6468275, essv6317844, essv5972646, essv5422569, essv5746290, essv6033507, essv6197403, essv6518351, essv6195287, essv5492735, essv5642089, essv6485247, essv6335681, essv5477034, essv5835453, essv6089532, essv5429985, essv6118980, essv5480734, essv6086707, essv6266324, essv5608586, essv5713300, essv5443416, essv5921063, essv5591081, essv5490950, essv5834268, essv6523510, essv5889498, essv5707518, essv6262862, essv6485177, essv5961586, essv6087687, essv5775482, essv5740636, essv5732643, essv6216709, essv6288724, essv6270540, essv6310460, essv5508618, essv5513094, essv6035374, essv5836624, essv5763778, essv6193159, essv5548962, essv5572044, essv6196150, essv5965647, essv6401303, essv6576143, essv5823665, essv6593373, essv5683409, essv6155517, essv5403098, essv6466676, essv5554917, essv5725756, essv5954048, essv5844347, essv6465666, essv5943090, essv6023181, essv5516281, essv5653079, essv5931279, essv6313558, essv5504624, essv5782457, essv5586121, essv5530891, essv5995788, essv5598158, essv5801669, essv5664604, essv6072532, essv6346342, essv5535624, essv5739405, essv6023737, essv6381442, essv6543165, essv5824973, essv6156816, essv5951497, essv6384323, essv5875747, essv6060126, essv6469555, essv5648239, essv6139584, essv5400864, essv6340186, essv5415423, essv5815410, essv6074864, essv5858542, essv6003941, essv5836349, essv6262560, essv6464827, essv6509710, essv6429641, essv5501274, essv6068957, essv5516359, essv6314922, essv6226097, essv5472939, essv5745043, essv5568267, essv6257670, essv5747519, essv6154487, essv5410890, essv6294904, essv6514105, essv5702098, essv6209447, essv5578833, essv5862290, essv5916823, essv5640755, essv5587936, essv5720245, essv6116260, essv5953589, essv5619454, essv5811395, essv6363002, essv6063201, essv6049612, essv6158980, essv6052045, essv6308415, essv6208493, essv5735555, essv6031187, essv6576272, essv5468628, essv6163060, essv5908128, essv5747898, essv6217261, essv5505005, essv5739508, essv6193829, essv5527665, essv6463634, essv6482467, essv6455534, essv6094750, essv6321970, essv5492421, essv6524041, essv5680531, essv6162819, essv5581073, essv6447257, essv6198604, essv6360388, essv5595536, essv5484361, essv6579176, essv5650127, essv5944333, essv5964163, essv6077223, essv6143750, essv6233790, essv5638544, essv6290946, essv6448560, essv5522176, essv6445483, essv6504514, essv6310557, essv6210575, essv6433266, essv5513571, essv5462972, essv5988527, essv6448409, essv6233627, essv5553390, essv6167586, essv6445685, essv5994688, essv6136850, essv6512545, essv6439897, essv6218993, essv5822620, essv6467922, essv5738197, essv6532104, essv6476330, essv6213967, essv5863800, essv5805727, essv6394835, essv6427894, essv6397413, essv6519222, essv5740312, essv5485729, essv6131039, essv5762852, essv5930070, essv6498411, essv5464826, essv5501225, essv5637695, essv6556659, essv6342859, essv5696044, essv5981610, essv6019938, essv5532493, essv6465615, essv6376711, essv5947627, essv5550412, essv5565031, essv6243471, essv6056660, essv6539336, essv6470815, essv6015899, essv5554496, essv5985953, essv6086407, essv5764710, essv6223582, essv5658354, essv5460525, essv6512515, essv5783221, essv6146559, essv6296219, essv6088346, essv6019068, essv6344377, essv6072430, essv6111255, essv5723398, essv6387195, essv6374248, essv5994325, essv6182658, essv6058161, essv6528628, essv5847678, essv5895153, essv5472080, essv6304511, essv6140088, essv6350106, essv6156701, essv5492498, essv5955091, essv5435723, essv5817016, essv5840432, essv5495132, essv5935467, essv5515168, essv6241195, essv6291324, essv5592369, essv5766515, essv6417202, essv5561458, essv5682043, essv5793746, essv6114345, essv5455915, essv5981554, essv5934071, essv5663519, essv5693408, essv6337078, essv6235842, essv5492328, essv6248485, essv5670046, essv6499454, essv6045495, essv5848330, essv5890631, essv5921170, essv5419951, essv6508595, essv6398926, essv6177277, essv6559103, essv5852159, essv6270374, essv5820252, essv6401343, essv6375643, essv6227028, essv5696028, essv6095185, essv6583473, essv5882763, essv6404133, essv6432146, essv6035476, essv6376720, essv6506901, essv5717192, essv5573176, essv6092177, essv5993479, essv5713157, essv5689277, essv5900835, essv5638385, essv6099330, essv6486975, essv5857520, essv5674737, essv6431564, essv6132580, essv6529570, essv5408797, essv6254574, essv5959865, essv5477885, essv6186917, essv6346440, essv5805093, essv5963692, essv6365841
SamplesHG01357, HG00613, HG01441, NA19012, NA11881, NA18621, HG00157, NA12154, HG00537, HG00252, NA18605, HG01440, NA07347, NA20787, HG00257, NA18616, NA19904, NA18951, HG01353, NA18530, NA18535, NA18630, HG00418, NA19081, NA12342, HG00328, NA20752, HG00705, HG00500, HG01173, NA11920, HG00171, HG01083, NA20510, HG00112, HG00186, HG00464, NA20544, NA18526, NA20535, HG01079, NA18545, NA18603, HG01389, NA20759, HG00463, HG00614, HG01051, NA19334, HG00189, HG00577, NA19331, NA20800, NA18953, NA12828, HG00428, NA18947, HG00542, HG01174, NA18541, NA18546, HG01167, NA20539, HG00683, HG00698, NA20805, HG00111, HG00334, HG00581, NA18963, NA19685, HG00187, HG00404, NA07051, NA19651, HG00280, HG01101, HG01134, HG00177, NA20798, HG00319, HG00699, NA20322, NA18557, NA19472, NA12287, NA18943, NA18950, NA19761, NA18628, NA18949, NA12414, HG01107, HG01550, HG00158, HG00556, HG01148, HG00242, NA11919, NA12763, NA19085, HG00346, NA18967, NA18627, NA19076, HG00593, HG01375, HG01378, NA18635, NA20811, NA18536, NA18622, NA18623, HG01061, NA20530, NA18990, HG00692, HG01183, NA18636, NA18592, NA19083, NA19088, NA12761, NA18956, HG00098, HG00149, NA18609, HG00125, HG01360, NA11894, NA12400, NA18637, NA19075, NA11995, NA18593, HG00276, HG00343, NA12144, NA19082, HG00662, NA20769, HG00373, NA19725, NA19313, NA19380, HG01437, NA19080, NA07346, NA12716, HG01516, NA18633, HG00653, HG00640, NA20760, HG00732, NA12348, NA19716, NA20790, HG00185, NA18968, HG00263, NA12275, NA19005, NA19002, NA19664, HG00672, HG00277, NA20815, NA20797, HG00524, NA20542, NA20813, HG00236, HG00120, NA18940, NA12891, NA18619, NA20525, HG00427, HG01137, HG01190, NA19376, NA20756, NA19391, NA19723, NA18538, NA19009, NA12889, NA18631, NA20289, NA20287, NA18544, HG00608, HG00654, HG01390, NA12878, NA18614, HG00530, NA18548, NA20317, NA11830, NA18944, NA11993, NA19717, HG00656, NA12842, NA19655, HG01366, NA18571, HG00422, NA20543, HG00708, NA18610, NA19070, HG00367, NA12045, NA18984, NA11932, HG00251, NA20768, HG00119, HG01498, HG00625, HG00690, NA12717, HG00641, NA18532, NA18549, NA18574, HG00183, HG00442, HG00473, HG00137, HG01102, HG01489, HG00684, NA18615, HG00143, HG00476, NA19448, HG00671, NA19087, NA20517, NA20772, HG00272, HG00345, HG00704, NA18555, HG00271, HG00278, NA20519, NA19779, HG00126, NA07000, NA19058, HG01067, HG01354, NA18553, HG00312, HG00327, NA18964, HG01515, NA12718, HG00313, NA19625, HG01359, NA12249, HG00318, HG00536, HG00607, NA12750, NA11930, NA20522, NA20809, HG01250, NA20785, HG01052, HG01075, NA18952, NA18975, NA07056, HG01342, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, NA18550, NA18570, NA19072, HG00261, HG00707, NA18511, HG01098, NA06989, NA12340, NA18948, NA19670, NA12813, NA20808, HG01492, NA20529, HG00173, HG00326, HG01491, NA18573, NA18608, NA20778, NA18542, NA19782, HG00270, HG00553, HG00190, HG00122, HG00701, NA20588, HG01188, HG01461, NA19648, NA20314, NA19004, HG00557, HG00366, HG00578, HG00146, NA18965, NA19474, NA19084, NA19780, NA12341, HG01551, HG00188, NA18626, HG00479, NA19654, NA20586, HG00247, HG00256, NA18632, NA20770, HG00244, HG00635, NA20532, HG00543, NA18559, HG00339, NA19914, NA19067, NA19982, NA20533, NA18624, HG00250, NA19054, NA19059, HG00472, HG00583, NA12383, NA18566, HG00337, NA11994, NA19660, NA12155, NA18576, NA18563, NA18618, NA07357, NA20504, HG00610, HG00231, HG00372, HG01495, NA20801, HG00689, NA20754, HG00141, HG00330, NA07048, NA18638, NA19398, NA19440, NA19066, NA11933, NA19774, NA20765, HG00178, HG00419, NA18547, HG00258, NA18976, HG01136, HG00264, NA19773, NA19056, NA19679, HG00403, NA12830, NA20589, HG00237, HG00584, HG00133, HG00114, NA19676, HG00436, HG00620, HG00124, HG00108, NA18537, NA18620, NA12892, HG00268, HG01066, HG00629, HG00559, NA06986, NA20344, NA19657, HG00560, NA18558, NA18977, NA18941, HG00232, HG01176, HG01356, NA18504, HG00478, NA18564, HG00116, NA20828, NA18613, HG00513, NA20582, HG00512, NA19707, HG00246, NA18562, NA19074, HG01060, NA18579, NA18974, NA18985, NA19462, HG00589, NA18945, HG01149, NA18606, NA18543, HG00151, NA11832, NA10851, NA18999, NA20581, NA18552, NA18983, HG00443, NA18567, NA19078, NA12749, NA20799, HG00650, NA12156, HG00262, NA18560, NA18989, HG00580, HG01112, NA18971, HG00311, HG00448, NA18577, NA20507, NA18533, NA11992, NA19064, NA19749, NA19063
Known GenesBCAR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676089
Frequency
Sample Size1151
Observed Gain0
Observed Loss476
Observed Complex0
Frequencyn/a


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