A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672479



Internal ID9591898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33355631..33355792hg38UCSC Ensembl
chr22:33751617..33751778hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6027234, essv6201591, essv5400254, essv6213696, essv5571125, essv6018192, essv6013959, essv6463620, essv5657671, essv5930489, essv6416158, essv6477624, essv5497328, essv5565040, essv6116048, essv5695346, essv6089290, essv5599085, essv6033477, essv6103404, essv6581086, essv5767393, essv6563821, essv6589959, essv5429160, essv6284164, essv6586056, essv5794777, essv6364266, essv5640899, essv5900466, essv5718939, essv5704896, essv5636262, essv6531850, essv6374663, essv5683972, essv6537112, essv5425114, essv5554450, essv6241465, essv6071803, essv5449652, essv6465983, essv6069494, essv5424228, essv5709038, essv5546226, essv6184981, essv5526279, essv5661502, essv5539617, essv5851473, essv6015820, essv5551376, essv5773780, essv6326134, essv6465477, essv5398916, essv6067952, essv5705783, essv6173726, essv6394751, essv6386598, essv5431198, essv5762749, essv5508899, essv6563291, essv5699456, essv6441198, essv5603053, essv6199693, essv5417193, essv5613946, essv6236923, essv6308258, essv6385533, essv5550804, essv5586109, essv5443147, essv5926894, essv6297581, essv5684120, essv6463405, essv5687613, essv5455969, essv6271693, essv5960614, essv6532197, essv5666660, essv5958818, essv6203001, essv5628414, essv5495823, essv5927857, essv6389494, essv6535191, essv6114784, essv6543607, essv5829302, essv6469133, essv5943734, essv5704872, essv6291363, essv5914291, essv5702615, essv6323109, essv5405705, essv5961798, essv6561529, essv6585089, essv5416641, essv5550079, essv5655806, essv5455101, essv5492936, essv5981831, essv6213225, essv6275032, essv6390770, essv5701654, essv6216539, essv6508742, essv5520333, essv6204643, essv5524728, essv5549426, essv6279809, essv6169751, essv5933610, essv6175579, essv6137709, essv6000665, essv6212938, essv6299110, essv5670824, essv5790845, essv5819126, essv6366105, essv5513791, essv5424211, essv5481544, essv6541325, essv5426285, essv6557525, essv5858116, essv5439796, essv5652280, essv6275481, essv6300371, essv6072291, essv6324237, essv6212591, essv6514573, essv5399657, essv5552029, essv6049385, essv6341868, essv6500903, essv5618390, essv6570058, essv5763685, essv6378067, essv5581594, essv6024324, essv6328049, essv5588483, essv5640881, essv6432853, essv5691358, essv5539507, essv5496575, essv6264630, essv6537467, essv6203784, essv6336391, essv6450581, essv6360917, essv5629682, essv6008618, essv5520498, essv6253181, essv6531430, essv5449194, essv5478489, essv6065356, essv6221298, essv5515036, essv6066394, essv6192310, essv6441394, essv6439835, essv5996375, essv6027727, essv6489471, essv5575728, essv5822274, essv5980616, essv6436603, essv6543354, essv5704157, essv6046183, essv6549084, essv5761620, essv6159972, essv6035491, essv5926565, essv5954300, essv6048398, essv6052423, essv6441345, essv6550510, essv5662046, essv5586037, essv5667303, essv6550947, essv5926206, essv6107057, essv6290607, essv5442873, essv6115545, essv6574164, essv5927657, essv5945155, essv6245046, essv5565568, essv5984932, essv6461774, essv6460434, essv5629274, essv6198685, essv5476442, essv5465830, essv5679327, essv5765380, essv5866241, essv6309540, essv5691875, essv5985194, essv6478772, essv6560893, essv5759327, essv6052095, essv6185485, essv6380854, essv6042122, essv6053996, essv6083500, essv6426403, essv6057268, essv5767707, essv5694654, essv5775782, essv6463337, essv5626079, essv6348509, essv6394468, essv6094607, essv5839691, essv6457404, essv5599920, essv5764022, essv5815450, essv5455453, essv6475962, essv6508437, essv6258399, essv6535677, essv5610636, essv5758455, essv6468849, essv5950211, essv6552621, essv5581721, essv6196415, essv6594749, essv6217829, essv5867352, essv5601254, essv6201636, essv6449459, essv5873770, essv6092707, essv6038375, essv6087928, essv6458910, essv6463615, essv6006567, essv5414991, essv6104762, essv5770461, essv5509163, essv5593190, essv6014623, essv5441868, essv5479676, essv6192577, essv6296136, essv5411722, essv5426679, essv6492961, essv5698380, essv6352576, essv6166657, essv6546770, essv6416278, essv6485371, essv5397619, essv5673610, essv6069247, essv6291344, essv5858621, essv6433081, essv6579625, essv5553822, essv5760410, essv6178052, essv6318167, essv6197018, essv5596331, essv6241110, essv5901380, essv5495685, essv5477512, essv6001219, essv6164478, essv5868900, essv6074484, essv6282760, essv6295995, essv6441857, essv6456981, essv5569036, essv6050801, essv6343994, essv5859240, essv6159173, essv6578516, essv6467597, essv6543044, essv6305633, essv6196953, essv6548282, essv5833044, essv6388968, essv6335526, essv5589046, essv5491483, essv5627767, essv5655257, essv5891170, essv6029622, essv5450232, essv5864523, essv6077330, essv6594127, essv6259270, essv5665725, essv5414057, essv6260895, essv5812477, essv5922674, essv6122668, essv5420851, essv5616201, essv6555363, essv6156978, essv6480668, essv6273825, essv5426715, essv5513844, essv5808405, essv5943674, essv6135818, essv6307098, essv5738358, essv6383967, essv5781611, essv6314657, essv5894934, essv5901417, essv6595136, essv6371330, essv5470159, essv6022446, essv5599458, essv6001967, essv6162446, essv6400610, essv6575958, essv6387288, essv5605072, essv6025095, essv6349488, essv6370451, essv5841743, essv6163316, essv6296012, essv6469363, essv5577355, essv6267673, essv6395407, essv6576329, essv5762891, essv6218302, essv5950590, essv5788276, essv5757131, essv5933270, essv5508524, essv5503555, essv6509446, essv6110596, essv6184353, essv5585507, essv6394608, essv5733033, essv6117741, essv6356500, essv5437037, essv5750179, essv6113595, essv5723712, essv6561167, essv5465048, essv5485087, essv5773914, essv5526134, essv5968577, essv6014118, essv6460526, essv5622834, essv5696750, essv6184967, essv6497569, essv6026941, essv6110130, essv6490554, essv6555335, essv5753566, essv6554654, essv6434137, essv6055284, essv5825125, essv5714122, essv6061725, essv6039838, essv5441729, essv6487691, essv5694232, essv6019524, essv6426868, essv6389688, essv5886324, essv5982312, essv5430162, essv5967453, essv6345817, essv5892434, essv5896803, essv5477891, essv6365935, essv5770994, essv5498401, essv6437627, essv5416602, essv5626739, essv6562082
SamplesHG00613, HG01441, NA19012, NA11881, NA18621, HG00309, NA12154, NA12489, HG00537, HG00252, HG01440, NA07347, NA19712, NA18520, NA20771, HG00182, NA18951, NA20527, HG00619, NA18534, NA18530, NA18535, NA18630, NA12286, NA19819, HG00551, NA12342, HG00328, NA20752, HG00500, HG01173, NA11920, NA20510, HG00274, HG00464, HG00131, NA20544, NA18526, NA20535, HG00155, HG00160, NA20346, NA19435, HG01079, NA10847, NA18545, HG01389, NA20296, NA20759, HG01365, HG00189, NA19453, NA20800, NA18953, HG01488, NA12828, NA18517, HG00428, HG01174, HG00148, HG01350, NA12005, HG00139, HG00739, NA18546, NA12058, NA20539, HG00683, HG00698, HG00111, HG00334, HG00581, NA19685, HG00404, NA07051, NA19651, HG00335, HG01134, NA19682, HG00177, NA19236, NA20798, HG00319, HG00253, HG00699, NA18557, NA20755, NA20803, NA18943, NA18950, NA19761, NA18949, NA20340, HG00554, NA12414, HG00556, HG01148, NA20505, NA11919, NA12763, HG00346, HG01384, NA12004, HG01378, NA18536, NA18622, HG00259, HG00096, NA18623, HG01048, NA19444, HG01061, NA20530, HG00692, NA18636, HG01124, NA18592, NA19083, HG00315, NA12761, HG00149, HG00338, NA18959, HG00533, HG00125, NA11843, NA11831, NA11894, NA12400, NA18637, NA20520, NA11995, NA18916, HG00634, NA18593, HG00276, NA12777, HG00343, NA12144, HG00662, NA19728, NA12751, HG00306, NA19725, HG00267, HG01437, NA19080, HG01097, NA12716, NA19189, HG00233, HG01516, HG00640, HG00732, HG00325, NA19716, HG00185, HG00263, NA19005, NA19002, NA19664, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, HG00277, HG01080, HG01351, HG00740, NA20797, HG00524, NA20542, NA20766, HG00525, NA19328, HG01383, HG00377, HG00236, NA19777, HG01094, NA12891, NA18987, NA20525, HG01137, NA18597, NA19921, NA19138, NA19729, NA20756, HG01095, NA12413, NA12889, NA19116, HG00118, NA18544, HG00448, NA18602, NA18577, NA20509, HG00654, NA12878, NA20507, NA20513, HG00530, NA20317, NA11992, NA12003, NA19770, NA20810, HG00144, NA19749, HG00281, NA18944, NA12399, NA19717, NA20812, HG00656, NA12842, HG00142, HG01366, NA18571, HG00422, HG00708, NA19198, HG00367, NA12045, NA20792, NA11932, HG00566, NA19130, HG00251, HG01177, NA19171, HG00320, HG00275, HG00324, HG00690, NA12717, NA20528, HG00641, NA18532, NA18549, NA18574, HG00183, HG00442, HG01374, HG00473, HG00137, HG01102, HG01489, HG00684, HG01377, NA06994, NA18615, HG00143, HG01110, HG00336, HG00476, NA20502, NA19087, NA20517, HG00345, HG00702, HG00704, NA18555, NA19385, NA19750, NA19661, HG00136, HG00126, NA12775, NA19746, HG00531, HG00312, HG00327, HG00361, HG00323, NA12827, NA18964, NA12718, HG00313, NA19625, HG00152, HG00734, HG01359, NA12249, NA19436, HG00318, HG00536, HG00607, NA12750, NA12748, NA20522, NA20278, HG00344, HG01072, HG01075, NA18561, NA19404, NA18952, HG00145, HG01342, NA20516, HG00369, HG00731, HG00245, HG00596, HG00736, NA20508, HG00449, HG00310, HG00261, HG00707, NA19455, NA06989, NA20294, NA20802, NA20775, NA18948, NA19670, NA20808, HG01492, HG00326, NA18608, NA20778, NA20786, NA18542, NA19782, NA19461, NA19210, HG00106, NA19834, NA12776, HG00651, NA19678, HG00366, HG00331, HG00146, NA12341, NA19467, NA19147, NA18626, NA19654, HG01133, HG01521, HG00256, NA18632, NA20770, HG00635, NA19762, NA20532, NA18559, HG00321, HG00339, NA20761, NA19067, NA19428, HG00179, HG00250, HG01140, HG01456, NA20819, NA19652, HG00583, NA12383, HG00337, NA11994, NA19057, NA19660, HG00140, HG00638, NA12155, NA18576, NA18960, HG00180, NA07357, NA20504, NA19722, HG00610, HG00231, NA20783, HG00372, NA20801, NA20807, HG00689, NA20754, HG00628, HG00330, NA07048, NA19066, NA11933, NA20541, HG00150, NA12829, NA18973, HG00264, NA19658, HG00637, HG00254, NA19056, NA12830, NA18634, HG00237, HG00133, NA18539, HG00114, HG01497, NA12006, HG00620, NA12046, HG00108, NA18537, NA18620, NA18572, NA20536, HG00268, NA20826, NA18486, HG00559, NA06986, NA18522, NA20334, HG00147, HG00260, NA19731, NA20540, HG01073, NA18558, NA19098, HG00239, HG00273, HG00282, HG01176, NA20818, NA18564, HG00116, NA20828, NA18613, HG00513, NA18988, HG00512, HG01070, NA19707, HG00246, NA18562, HG01060, NA18974, NA18985, NA19462, HG00589, NA18945, NA10851, NA18999, NA20581, NA18599, NA18567, HG00611, NA12749, HG00650, NA19394, HG00138, HG00663, NA12156, HG00262, NA18560, HG00580
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672479
Frequency
Sample Size1151
Observed Gain0
Observed Loss468
Observed Complex0
Frequencyn/a


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