A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676562



Internal ID2909649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71496824..71496944hg38UCSC Ensembl
chr10:73256581..73256701hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6451958, essv6054419, essv6487564, essv5901775, essv5532815, essv6002628, essv6410930, essv6166670, essv5426576, essv5774437, essv6582828, essv5680453, essv5854315, essv5886468, essv6106946, essv5902199, essv5954676, essv5645291, essv6002333, essv6262441, essv5626520, essv5758429, essv5920333, essv6136369, essv6513725, essv6012718, essv6422503, essv6265652, essv5716366, essv6461792, essv6493663, essv5521303, essv6268571, essv6459098, essv5429111, essv6119017, essv5755352, essv5837257, essv6276298, essv6305218, essv6492900, essv5641235, essv5600822, essv5697685, essv6350472, essv5557253, essv5469204, essv6102696, essv5995278, essv5514131, essv5872500, essv6172325, essv6446153, essv6062021, essv6511883, essv6079852, essv5768896, essv6281772, essv6340357, essv5814065, essv6104556, essv5437186, essv6155071, essv6359268, essv5838890, essv6265591, essv5830449, essv5926655, essv6330671, essv5987706, essv6595496, essv6569354, essv5877171, essv6159744, essv6070898, essv6428904, essv6431233, essv5524246, essv6443311, essv5978854, essv5835232, essv6054183, essv5979400, essv6516843, essv5753880, essv5408568, essv6452667, essv6570874, essv6446077, essv5537655, essv6340776, essv6582062, essv6287615, essv6053425, essv5618104, essv5825356, essv5655887, essv5866678, essv6044052, essv6372335, essv6105600, essv5745320, essv6556353, essv6416140, essv5636573, essv5552947, essv6366362, essv6394801, essv5564578, essv5570921, essv6425403, essv6370522, essv6457113, essv6458762, essv5855918, essv6122523, essv5859584, essv5412155, essv6521030, essv5405111, essv5875516, essv6559930, essv5988449, essv5955915, essv6131611, essv5498882, essv5435011, essv5614741, essv6593279, essv6512462, essv5593403, essv6395691, essv5690106, essv6320584, essv5596776, essv5673163, essv5400698, essv5585743, essv6566527, essv6039181, essv5842104, essv6321163, essv5948384, essv5747942, essv5651678, essv6044345, essv5657555, essv6085522, essv6338963, essv6374245, essv6208100, essv5968543, essv5934822, essv5433566, essv5489728, essv5456054, essv6460522, essv5651482, essv5543714, essv6125009, essv5982272, essv5462264, essv6086349, essv5584458, essv5979745, essv5624958, essv5908836, essv5916055, essv6530796, essv6085057, essv6352301, essv6230372, essv5873726, essv6241964, essv6157351, essv5631757, essv6221327, essv5574140, essv5738500, essv6459952, essv6177226, essv5837187, essv5937161, essv5668721, essv6014416, essv5610370, essv6274187, essv6029816, essv6302179, essv5754623, essv5906976, essv6567071, essv6226044, essv6537851, essv6126332, essv5681613, essv5770834, essv6354937, essv5857553, essv5648343, essv6192248, essv5984816, essv5691005, essv5903047, essv5876458, essv5886619, essv6291873, essv6133429, essv5519337, essv5838015, essv6130287, essv6202154, essv6415229, essv5850736, essv6286274, essv5448715, essv5604068, essv5762087, essv6047330, essv6403860, essv6333606, essv5902497, essv6587886, essv5857028, essv6038576, essv5882571, essv5900360, essv6264271, essv5924165, essv6229407, essv6281369, essv5862571, essv6575436, essv6577472, essv5689301, essv5578195, essv5537071, essv6068312, essv5803018, essv6344981, essv5609853, essv5563193, essv6544419, essv6438532, essv5604249, essv6398836, essv6132370, essv6110691, essv6478702, essv6075540, essv6506581, essv6095932, essv6178657, essv6091399, essv5542833, essv5915413, essv6182973, essv6100057, essv5430891, essv6499455, essv5606694, essv6439316, essv6342124, essv5889012, essv6450641, essv5495569, essv6372986, essv6031854, essv5764932, essv6548785, essv5989689, essv6476327, essv5770714, essv6068270, essv5613368, essv5658109, essv6160819, essv5952094, essv5564113, essv6385830, essv6499710, essv6119290, essv6452545, essv6173572, essv6355751, essv6317777, essv6103584, essv6459516, essv5935530, essv6112488, essv5978412, essv5730982, essv6243631, essv5553760, essv6556333, essv5911763, essv5743068, essv5413388, essv6360683, essv6479265, essv6540916, essv5650005, essv5481574, essv6444722, essv6558957, essv5693734, essv6407596, essv5591729, essv5582603, essv6195839, essv5753781, essv6523540, essv5964762, essv5687856, essv5415584, essv5851045, essv5750854, essv6391926, essv6512358, essv6225547, essv6354208, essv6096609, essv5522630, essv6353725, essv5522422, essv6034442, essv6568352, essv6253708, essv5763557, essv6085438, essv6569717, essv6278116, essv5422848, essv6258857, essv6110488, essv5678264, essv5592849, essv6098245, essv5941672, essv6228658, essv5807919, essv6447263, essv6524879, essv5974682, essv6373248, essv5497281, essv6352623, essv6538655, essv5445855, essv5582083, essv6460549, essv6025043, essv5450815, essv6509650, essv5432063, essv5688456, essv6531625, essv6026849, essv6128709, essv6537933, essv6202155, essv6581667, essv6133948, essv6243853, essv6567718, essv6396723, essv5909032, essv5553106, essv6368848, essv6082223, essv5422591, essv6271663, essv5568224, essv5478885, essv5903219, essv5443046, essv5857307, essv5753262, essv6168995, essv5892113, essv5838442, essv5723248, essv5557926, essv5771476, essv5630824, essv5894588, essv5843426, essv5571408, essv6032575, essv6598383, essv6039090, essv5643295, essv5634846, essv5397701, essv5546464, essv6290875, essv5912512, essv6368054, essv6122848, essv6268928, essv6114562, essv6520686, essv5565253, essv5484856, essv6124445, essv6053831, essv5796541, essv5567563, essv6405559, essv6463768, essv6273934, essv5418689, essv6047915, essv5548556, essv5754622, essv5954444, essv5584539, essv5711370, essv6174183, essv6111379, essv6092283, essv6544937, essv6451125, essv5813155, essv6374817, essv6170855, essv6495846, essv6299290, essv5884497, essv6294797, essv6464262, essv6247040, essv6470182, essv6397124, essv5912710, essv5809285, essv5507878, essv6111354, essv6296729, essv6115961, essv6052352, essv5860752, essv5866325, essv5667595, essv6201222, essv5827123, essv5873003, essv6306792, essv5920105, essv6397264, essv6543884, essv6156259, essv5600601, essv5449338, essv5611236, essv5768307, essv6184807, essv5992929, essv6119644, essv5910044, essv6581580, essv5646144, essv5398113, essv5636511, essv5641026, essv5899512, essv5710120, essv5466648, essv6516297, essv5790923, essv6555013, essv6381092, essv5708910, essv5731395, essv6380344, essv6550130, essv6544067, essv6031701, essv6509751, essv5992402, essv5630304, essv6170532, essv6125374, essv5701612, essv6403266, essv5598871, essv5506785
SamplesHG01357, NA19012, NA18621, HG00309, HG00157, NA12154, NA12489, HG00537, HG00252, NA18605, HG01440, NA20787, NA19712, HG00257, NA18595, HG00182, NA19904, NA20527, HG00619, NA18534, HG01353, NA18530, NA18535, NA12286, HG00551, NA12342, HG00328, HG00705, HG00437, HG00500, HG01173, NA20510, HG00274, HG00464, NA19093, HG00131, NA20544, NA19311, HG00160, NA19435, NA18603, HG01389, HG00463, NA19359, HG00614, HG01051, HG01365, HG00189, NA20800, HG01488, HG00428, HG00475, NA18947, HG01350, HG00139, HG00739, NA18489, NA18546, NA19379, NA12058, NA18507, HG00698, NA20805, HG00111, HG00334, NA18963, HG00187, HG00404, HG00280, HG00335, HG01101, HG01168, NA19257, HG00177, NA19236, NA20798, HG00319, HG00737, HG00253, HG00699, NA18557, NA19472, NA20755, NA12287, NA18943, NA18950, HG01171, HG00353, NA19077, NA19463, NA11919, NA12763, NA19085, HG00346, NA19239, HG01375, NA19390, HG00421, NA12004, HG01378, NA20811, NA18536, NA19675, NA18622, HG00259, NA19443, NA18623, HG01048, NA19107, NA18990, HG01183, NA18636, HG01124, NA18592, NA19088, NA20127, HG00315, NA12761, NA19429, HG00338, NA18959, HG00125, NA11843, NA11831, NA12400, NA20520, NA18593, HG00276, HG00284, NA19457, NA12777, HG00343, NA12144, NA19082, HG00662, NA12751, NA19190, NA19055, NA20769, HG00306, HG00373, NA19725, NA19313, NA19380, HG01111, HG01437, NA19395, NA19080, NA12716, NA19129, HG00233, HG01516, NA18633, HG00653, NA19374, HG00732, NA12778, NA19384, HG00325, NA12348, HG00185, NA18986, NA12275, NA19005, HG01069, HG00249, NA11892, HG00277, HG00103, HG01351, NA20815, HG00740, NA20797, NA20542, HG00534, NA12283, NA18910, HG00377, NA20813, NA19777, NA18940, NA12891, NA18619, NA18987, NA12890, NA20525, HG01137, NA19138, NA12272, NA20756, NA19391, NA20276, NA12413, NA20287, NA19755, HG00654, HG01390, NA12878, NA11830, HG00123, HG00285, NA18944, NA19225, NA12546, NA19371, HG00708, HG01108, NA18610, NA20758, NA11932, HG00251, NA19240, HG00119, HG00320, HG00275, HG00324, HG00625, HG00690, NA12717, NA20528, HG00183, HG00442, HG01374, HG00137, NA19381, NA19473, NA20524, NA20804, HG00684, HG01377, HG00143, HG00336, NA19448, NA20502, HG00671, NA19087, NA20517, HG00272, HG00345, NA19092, HG00704, NA18555, HG00271, HG00278, NA19779, HG00136, NA18519, NA07000, NA12775, NA19058, HG01067, NA18553, HG00327, HG00323, NA12827, HG00313, NA12043, NA19625, NA12249, NA19436, HG00318, HG00607, NA12750, NA20514, NA12748, NA11930, NA07037, NA19321, NA20522, NA20809, NA20503, HG00344, HG01072, NA20785, HG01052, NA18561, NA18933, NA19404, NA07056, NA18874, HG01342, NA20516, HG00369, NA18612, HG00731, NA19401, NA20508, HG00449, HG00310, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, NA20294, NA20775, NA18948, NA19670, NA11931, HG01492, NA20816, NA19010, HG00375, NA18608, NA20786, NA18542, NA19782, NA19210, HG00701, NA19834, NA20588, NA12776, HG01461, NA19648, HG00651, NA19004, HG00557, HG00366, NA11893, NA19108, HG00331, NA18965, NA18488, NA19084, NA18873, NA19776, NA19438, HG01133, NA18632, HG00342, HG00543, HG00154, NA18559, HG00321, HG00339, NA19914, NA20761, NA19383, NA12843, NA20533, HG00250, HG01140, NA18508, NA19054, NA20819, NA20515, HG00472, NA12383, NA18566, HG00337, NA11994, NA19057, NA19068, HG00140, NA18576, NA18960, NA18563, NA07357, NA19900, NA20504, NA20757, NA20801, NA20807, NA20754, HG00628, NA19397, HG00330, NA18638, NA19398, NA19440, NA19066, NA20541, HG00419, NA18547, NA12829, NA19256, HG01136, NA18973, NA18982, HG00254, NA12830, HG00357, HG00237, HG00584, NA18539, HG00114, NA12006, NA19213, HG00436, HG00159, HG00620, NA19377, NA12046, HG00108, NA18537, NA18620, NA19172, NA12892, NA18572, NA20536, HG00268, HG01066, NA19373, NA18923, NA20826, NA06986, NA18522, NA19238, HG00260, NA18502, NA19731, HG01073, NA18558, NA18977, HG00273, HG00282, HG00232, HG01176, NA20814, NA20818, HG00478, NA18487, NA18564, NA18858, HG00116, NA19347, NA20774, NA20828, NA19332, NA18613, HG00513, NA20582, NA18988, HG00329, HG00512, HG01070, NA19707, HG00246, NA19074, NA19382, HG00589, HG01149, NA18606, NA10851, NA18582, NA20581, NA20537, HG00590, NA18983, HG00443, NA18907, HG00611, HG01334, NA20799, NA06984, NA18867, NA19394, NA19403, HG00138, HG00663, NA12156, NA18560, NA18989, HG00580, NA19434, HG00311, HG00448, NA18602, NA18577, NA19099, NA19446, NA20507, NA20513, NA18533, NA11992, NA12003, NA19064, HG00281, NA11993, NA19717, NA12842, NA18571, HG00367, NA18984, HG00693, HG01125
Known GenesCDH23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676562
Frequency
Sample Size1151
Observed Gain0
Observed Loss487
Observed Complex0
Frequencyn/a


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