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 Variantsessv5683972, essv5520498, essv5926894, essv5491483, essv5985194, essv5891170, essv5495685, essv6541325, essv5981831, essv6426403, essv6433081, essv6296136, essv6366105, essv6103404, essv5984932, essv6260895, essv6201591, essv5424211, essv6465477, essv6463615, essv6395407, essv6258399, essv6579625, essv5812477, essv6275032, essv5411722, essv6389494, essv6117741, essv6199693, essv6585089, essv6436603, essv5655257, essv6156978, essv6370451, essv6371330, essv6456981, essv6236923, essv6071803, essv5470159, essv5655806, essv6589959, essv6562082, essv5696750, essv5414991, essv6550510, essv5439796, essv6554654, essv6400610, essv6042122, essv5593190, essv5498401, essv6241110, essv5684120, essv5894934, essv6489471, essv5465048, essv6416278, essv5738358, essv6335526, essv5626739, essv5455969, essv6115545, essv6581086, essv6107057, essv5790845, essv5495823, essv6555363, essv6318167, essv5770994, essv5705783, essv5900466, essv6441198, essv6039838, essv5508899, essv6038375, essv5922674, essv5400254, essv5420851, essv6046183, essv5950590, essv6531430, essv6549084, essv6077330, essv5603053, essv6356500, essv5661502, essv6001967, essv6570058, essv5980616, essv5858116, essv5636262, essv6552621, essv5775782, essv6563821, essv6463620, essv6535191, essv6024324, essv6390770, essv5662046, essv6514573, essv5481544, essv6323109, essv5967453, essv6273825, essv5886324, essv6052423, essv5585507, essv6336391, essv5699456, essv6204643, essv6543354, essv6279809, essv6015820, essv6416158, essv6196953, essv5927857, essv5788276, essv6457404, essv6159173, essv5588483, essv6532197, essv5933270, essv5424228, essv6461774, essv6500903, essv6365935, essv5414057, essv6475962, essv6595136, essv5859240, essv5762891, essv5398916, essv5695346, essv6531850, essv5927657, essv5858621, essv5599085, essv5616201, essv6487691, essv6203784, essv5524728, essv5613946, essv6426868, essv6485371, essv6449459, essv5829302, essv6324237, essv6508742, essv6458910, essv6053996, essv5761620, essv6389688, essv6295995, essv6594127, essv5496575, essv5416641, essv5599458, essv6022446, essv5714122, essv5701654, essv5553822, essv6196415, essv5723712, essv5825125, essv5667303, essv6348509, essv5896803, essv6083500, essv6184353, essv6467597, essv6378067, essv5618390, essv6563291, essv5794777, essv5526279, essv6069247, essv6198685, essv5430162, essv5610636, essv6341868, essv6110130, essv6537112, essv5515036, essv6221298, essv5629274, essv6114784, essv6192310, essv6450581, essv5577355, essv6159972, essv6033477, essv5626079, essv5571125, essv6299110, essv6328049, essv6380854, essv6291363, essv6014118, essv5526134, essv5758455, essv5581721, essv5833044, essv6307098, essv6546770, essv6586056, essv6463337, essv5868900, essv6074484, essv5554450, essv6197018, essv5455101, essv6383967, essv6437627, essv5443147, essv5943674, essv5762749, essv6185485, essv6014623, essv6345817, essv5901380, essv5704896, essv6275481, essv5550079, essv6035491, essv5760410, essv6291344, essv6480668, essv6164478, essv6314657, essv5628414, essv5509163, essv6360917, essv5565040, essv5426715, essv6029622, essv5933610, essv5767393, essv5763685, essv5750179, essv5958818, essv5546226, essv6468849, essv6061725, essv6212938, essv6326134, essv6477624, essv5866241, essv5601254, essv6561529, essv5764022, essv6374663, essv6469363, essv6463405, essv6162446, essv5694232, essv5549426, essv5478489, essv5442873, essv6104762, essv5815450, essv6492961, essv6027727, essv6352576, essv6594749, essv5781611, essv6066394, essv5405705, essv6110596, essv5773780, essv5508524, essv5770461, essv6578516, essv6026941, essv5425114, essv6509446, essv6460434, essv6192577, essv6296012, essv6434137, essv6241465, essv6267673, essv5497328, essv5399657, essv5679327, essv5808405, essv5665725, essv5640881, essv5950211, essv6576329, essv5652280, essv5477891, essv6089290, essv5455453, essv6441345, essv5892434, essv6018192, essv5437037, essv6245046, essv5441729, essv6216539, essv6218302, essv6201636, essv6550947, essv5698380, essv5901417, essv5954300, essv5691358, essv6213696, essv5767707, essv5864523, essv6169751, essv6543607, essv6065356, essv6163316, essv5733033, essv6087928, essv6050801, essv5926565, essv6116048, essv6560893, essv5586109, essv5914291, essv6561167, essv6217829, essv6432853, essv5551376, essv6113595, essv6203001, essv6006567, essv5718939, essv6137709, essv5773914, essv5709038, essv6441857, essv6364266, essv6282760, essv5765380, essv6122668, essv6067952, essv6537467, essv5476442, essv6173726, essv5539507, essv6094607, essv6305633, essv6460526, essv5426285, essv6213225, essv5589046, essv6469133, essv5596331, essv5426679, essv6386598, essv6394751, essv6027234, essv5968577, essv6175579, essv6072291, essv6264630, essv5429160, essv6092707, essv5841743, essv6166657, essv6308258, essv6555335, essv5431198, essv6055284, essv5397619, essv5670824, essv5552029, essv6184981, essv5839691, essv5605072, essv5479676, essv6387288, essv6394608, essv5520333, essv6478772, essv5539617, essv5449194, essv6048398, essv5822274, essv5704157, essv6259270, essv6271693, essv6212591, essv5945155, essv5691875, essv5666660, essv5753566, essv6019524, essv5441868, essv6497569, essv6385533, essv6300371, essv6575958, essv6057268, essv6135818, essv5627767, essv6290607, essv6008618, essv5996375, essv5819126, essv5702615, essv5873770, essv5704872, essv6439835, essv5417193, essv5640899, essv5575728, essv6069494, essv5477512, essv6508437, essv6574164, essv5851473, essv5416602, essv5450232, essv6388968, essv5513791, essv5465830, essv6441394, essv5586037, essv6178052, essv5982312, essv6557525, essv6013959, essv5581594, essv6297581, essv5943734, essv5485087, essv6543044, essv5694654, essv6349488, essv5759327, essv5673610, essv6394468, essv5599920, essv6052095, essv6490554, essv6284164, essv6025095, essv5550804, essv5565568, essv5657671, essv5492936, essv6184967, essv5926206, essv5622834, essv5629682, essv6465983, essv5961798, essv6343994, essv6001219, essv6535677, essv6049385, essv5867352, essv5449652, essv5569036, essv6000665, essv6309540, essv5687613, essv6548282, essv5513844, essv5503555, essv5960614, essv5930489, essv6253181, essv5757131
SamplesHG00189, HG00650, HG00442, NA18621, HG00142, NA19664, NA12414, NA11920, NA18999, HG00233, NA12751, NA18530, NA12750, NA19067, HG00337, HG00138, NA19171, HG01350, HG00589, NA20798, HG01177, NA19678, NA20756, NA18558, HG01492, NA18960, NA18916, NA18574, NA07048, HG01365, HG00537, NA18949, HG00512, HG00281, HG00139, NA20759, HG00335, NA20775, NA20812, NA18985, HG00326, HG00323, NA20755, NA19921, HG00137, NA12777, NA18951, NA20535, NA12489, HG00731, NA20800, NA19056, NA12878, HG01095, NA20810, NA19717, HG00344, NA12718, NA18572, NA18948, HG00692, NA18537, HG01102, HG00690, HG00404, NA12829, HG00331, NA19750, NA19453, NA18532, NA06989, NA19682, HG00126, NA19625, NA18593, NA19729, HG00611, NA19652, HG00336, NA18517, NA19712, NA18564, HG00580, NA19444, NA20520, HG01174, NA19428, HG00116, NA19083, NA18943, NA12763, HG00662, NA18615, HG01342, NA19328, HG00513, HG00267, NA19770, NA20826, HG00377, HG00274, HG00628, HG01437, HG00581, NA18577, HG00096, HG01060, HG00114, HG01441, NA11995, NA18592, HG01359, HG01079, NA18561, NA11933, NA18599, HG01389, HG01374, HG00306, NA12045, HG00699, NA19819, NA12004, NA12058, NA20808, NA20346, HG00150, NA20507, NA19098, NA18526, NA12400, NA12413, NA12341, NA19746, NA19660, HG00251, NA19728, HG00702, HG00689, HG00330, HG00634, HG00736, HG00610, NA20540, NA20513, HG01110, NA20541, NA12761, HG01134, HG00277, NA12005, NA19651, HG00683, HG00106, HG01170, HG00236, HG00262, NA20340, NA18560, HG01176, NA19087, NA12889, HG00182, NA19002, NA19725, NA19189, NA18520, HG00637, HG00338, NA12828, NA18973, HG00530, NA12748, HG00464, HG00108, NA20818, HG00149, NA18613, HG00183, NA19707, HG01384, NA12342, HG00428, NA19462, NA20536, HG00500, NA20770, HG01094, HG01383, NA20828, NA18536, NA20542, NA18576, NA20296, NA19685, HG00476, NA20801, NA18535, NA11881, NA19834, NA18952, NA18559, NA12775, NA19749, NA18950, HG00136, HG00638, NA07051, HG00607, NA20504, HG00319, NA20803, HG00256, HG00125, HG00707, HG00672, HG00312, NA18987, NA12749, NA12830, NA20807, HG00343, HG00372, HG00252, HG01377, HG00345, HG01097, NA18549, NA20509, NA19394, NA12383, NA20761, NA12717, HG01173, NA12842, HG00143, NA20766, NA12286, NA20508, NA19066, NA10851, HG00559, NA20783, HG00315, NA20752, NA20802, NA20294, NA18959, HG00449, NA20517, HG00654, HG00261, NA20771, NA12399, NA18602, NA18988, HG00663, HG00641, NA18597, HG01351, NA18567, NA07347, NA18571, HG00334, HG00185, NA19130, NA20539, HG01069, HG01080, NA20278, HG00148, NA12156, HG00325, NA11932, NA11994, NA19722, HG00160, HG00118, NA18557, HG01048, HG01133, HG00253, NA18539, HG01124, HG00268, HG00282, NA19670, HG00245, HG00732, NA19455, HG00556, HG00583, HG00263, HG00275, NA18534, HG00551, HG00239, HG00740, NA20525, NA19654, HG00324, NA19461, NA11919, HG00651, HG00250, NA18626, HG00531, NA20581, HG00684, HG00140, HG01497, HG00144, NA19761, NA18555, HG00152, HG00146, HG00704, NA12144, HG00246, HG01075, NA19012, NA18974, NA18953, HG01148, NA18632, HG00155, HG00254, NA19147, HG00734, NA20530, NA20527, HG00473, NA20792, NA20778, HG00237, NA20544, HG01137, HG01489, HG00620, HG00339, NA06994, HG00259, NA19716, NA20510, NA18636, HG00310, NA20786, NA11843, NA19116, NA19080, NA20502, HG00147, NA11892, NA12006, NA18623, NA12154, NA20754, NA18620, HG01516, HG01521, HG00536, HG00231, HG00249, HG00361, HG00524, NA20532, HG00640, HG00367, HG00318, NA18486, NA18545, NA19777, NA19057, HG01456, HG00566, HG00179, HG00177, NA12155, NA07357, HG01140, HG00327, NA19005, NA18944, HG01366, HG01070, HG00501, NA19762, HG01488, HG00448, NA19198, NA20317, NA12891, NA11992, HG00346, NA19138, HG00369, NA19782, NA18964, NA19404, NA20819, HG01072, NA19731, NA19385, HG00422, HG01440, HG00309, HG00739, HG00264, HG00260, NA11831, NA10847, HG00313, HG00133, NA18544, NA19210, HG00596, HG00145, HG00328, NA20505, NA12003, NA19236, HG00320, HG00533, NA18637, NA19658, NA18630, HG00619, HG00708, HG00635, HG01073, HG00273, NA11894, NA12249, HG00613, HG00525, HG00321, NA12827, HG00276, NA18634, NA18945, NA19436, NA18546, NA18608, NA20522, NA18542, NA12716, HG00366, NA19435, NA12046, NA19467, NA20516, NA20797, NA06986, HG00111, HG00656, NA20334, HG00698, HG00131, NA20528, NA19661, HG01378, NA18522, HG00554, HG00180, NA18622, HG01061, NA18562, NA12776
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer