A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663480



Internal ID9582899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494746..120497452hg38UCSC Ensembl
chr9:123257024..123259730hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382707
hg192707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5472888, essv5424878, essv6568923, essv5690923, essv5847846, essv5509565, essv6326288, essv5961844, essv6368947, essv5515252, essv5697385, essv6315902, essv5915429, essv6077875, essv5631125, essv6112247, essv6234807, essv6475452, essv6256000, essv5959486, essv6267113, essv6453700, essv5664236, essv6196518, essv5450420, essv5707168, essv5650736, essv6486209, essv6237075, essv5785723, essv6393309, essv6266261, essv6511482, essv6592356, essv6393345, essv5980078, essv6446966, essv5883969, essv6586354, essv5456984, essv5810858, essv6231514, essv6591560, essv6313934, essv6116002, essv5539293, essv5614532, essv5900215, essv5989358, essv6505411, essv6051005, essv5794853, essv5842243, essv6099809, essv5658999, essv6319536, essv5986900, essv5943102, essv6056734, essv6025403, essv6319035, essv5920479, essv6282387, essv5745028, essv6107270, essv5506577, essv5752243, essv6253268, essv5589669, essv5780306, essv5844960, essv5442046, essv5910034, essv5639374, essv6084659, essv6500517, essv5977168, essv6239667, essv6356494, essv6220703, essv6459114, essv5547158, essv5908276, essv6036769, essv6370070, essv6420802, essv6499894, essv6344724, essv5951848, essv6589391, essv5762798, essv5989266, essv5639169, essv5467146, essv6567903, essv5538647, essv6066346, essv6224720, essv5510603, essv6253367, essv6328773, essv6118696, essv5573465, essv5932370, essv6438147, essv5463795, essv6218711, essv5468095, essv5808264, essv5807822, essv5713218, essv5650719, essv5439157, essv6117521, essv6398190, essv6317769, essv5872140, essv6248627, essv5829100, essv6457567, essv6491328, essv6052904, essv5490742, essv5746267, essv6135516, essv6507836, essv6155864, essv6347196, essv5963560, essv6410867, essv6295989, essv6422866, essv6173343, essv5757756, essv6125477, essv5798642, essv6325125, essv6038441, essv6307096, essv5836259, essv6563102, essv5527525, essv5439391, essv5628775, essv6212469, essv5526617, essv5869149, essv5801796, essv5647809, essv5654941, essv5990802, essv6085665, essv5719198, essv6223761, essv5751790, essv6334847, essv6587452, essv6182337, essv5554014, essv6526438, essv5806892, essv5449728, essv6129762, essv6565088, essv5809045, essv6254756, essv6536627, essv6042910, essv6271764, essv6365154, essv5784140, essv5998062, essv5624563, essv6160852, essv5481284, essv5726866, essv6344945, essv6485608, essv6489092, essv6202679, essv5445399, essv5667527, essv5643450, essv6320241, essv5985542, essv6083584, essv6520394, essv5472160, essv5933089, essv5515181, essv5926646, essv6386334, essv6399231, essv5689994, essv6104796, essv6310938, essv5697109, essv5897084, essv5602015, essv5718179, essv5938065, essv6386879, essv5857269, essv6577244, essv6131582, essv6146391, essv6309508, essv6414149, essv5558664, essv6071879, essv5468706, essv5981501, essv6240106, essv6080914, essv6491643, essv5523764, essv5625414, essv5903384, essv5458435, essv5465863, essv6008215, essv6149211, essv6597272, essv5967020, essv5775599, essv6484586, essv6062909, essv6075570, essv6447346, essv5414388, essv6152079, essv5425025, essv5425049, essv6038678, essv6331440, essv6342323, essv5683978, essv5991818, essv5719181, essv5937581, essv6264754, essv6314526, essv6551376, essv5642929, essv5997293, essv6215258, essv5682062, essv6290515, essv6465268, essv5584704, essv5690641, essv5749610, essv6139953, essv6216527, essv5946095, essv5969328, essv6344437, essv5787163, essv6020154, essv5479681, essv5536530, essv5422435, essv5583080, essv6580997, essv5719589, essv5873709, essv6300550, essv5581673, essv5609035, essv5578955, essv5582511, essv5687382, essv6044671, essv5588212, essv5844089, essv5871167, essv6176047, essv6290042, essv5941052, essv6192794, essv6034056, essv6300438, essv6455619, essv6193856, essv5665506, essv5409860, essv6165417, essv6391372, essv6149190, essv5464480, essv5691707, essv5932652, essv6148888, essv5810958, essv5607368, essv6411717, essv6162783, essv6421906, essv6480693, essv5596753, essv5709375, essv6333127, essv6171567, essv5420118, essv6081148, essv6088796, essv5540825, essv6420561, essv6343958, essv6236632, essv5647123, essv5919410, essv5559922, essv5882940, essv6034139, essv5699598, essv6091648, essv5733239, essv6128655, essv6289546, essv6238421, essv5696836, essv6157328, essv5759614, essv5411568, essv5672264, essv6253118, essv5537384, essv6542364, essv5856557, essv6047952, essv5921592, essv5624527, essv5731950, essv5779483, essv6497028, essv5716330, essv5983011, essv5864505, essv5431131, essv6539822, essv6556612, essv5616912, essv6200248, essv5546595, essv5942600, essv6365977, essv6159921, essv6334059, essv6227290, essv5541029, essv5958741, essv6119846, essv6415717, essv6182722, essv6589970, essv6182235, essv6481907, essv5404039, essv5687075, essv5836308, essv6292331, essv6537463, essv6524716, essv6538134, essv6566461, essv5481584, essv6116639, essv6550611, essv5855340, essv5875309, essv5905539, essv6589063, essv5740487, essv6383386, essv6309093, essv5412524, essv5930044, essv5661891, essv6408204, essv6575264, essv5743381, essv5573700, essv5879697, essv6432254, essv6367302, essv5408742, essv5922361, essv6042104, essv5484742, essv6524982, essv5683248, essv5876968, essv5817720, essv6199574, essv5533603, essv6288387, essv5623203, essv6424897, essv6194668, essv6055686, essv6469256, essv6358324, essv5799597, essv5410179, essv5738903, essv6258878, essv5467205, essv5719838, essv5778182, essv5413636, essv6092211, essv6558941, essv6113955, essv6152749, essv5646346, essv5993634, essv6112617, essv5597564, essv5864593, essv6143903, essv6162787, essv5723006, essv5636940, essv6104397, essv6391450, essv5966401, essv5685180, essv5993036, essv6372870, essv5639373, essv6324672, essv6360196, essv5887918, essv5671601, essv6085848, essv5920203, essv5913228, essv5673562, essv5584465, essv5680183, essv5800326, essv6279411, essv6584773, essv5655719, essv6196554, essv5541593, essv5597505, essv6094519
SamplesHG00613, NA19012, NA18621, NA18870, NA19248, NA19312, NA12154, HG00537, HG01440, NA18520, NA18616, NA18951, HG00619, NA18534, NA18530, NA18535, NA18630, NA18871, HG00418, NA19081, NA19819, NA19114, HG00705, HG00437, HG00500, NA11920, HG00464, NA18501, NA19093, HG00131, NA20796, HG00565, HG00155, NA19311, NA11918, NA19469, NA20346, NA19435, NA18603, NA19319, NA20296, NA20759, HG00463, HG00657, NA18516, NA19359, HG00614, HG01051, NA19334, HG00189, NA19331, NA19453, NA18953, HG01488, HG00428, HG00542, NA19449, NA19920, NA18489, NA18546, NA12058, HG00698, HG00111, HG00581, NA18963, HG00404, HG00335, NA19257, HG00177, NA19236, HG00319, HG00737, HG00253, HG00699, NA18505, NA18557, NA19472, NA20803, NA18943, NA18950, HG00353, NA18596, NA18628, NA18949, HG00269, HG00554, NA19077, NA19062, NA19463, NA11919, NA12763, NA19085, NA18967, NA19239, NA18627, HG00421, NA12004, NA18635, NA19917, NA20811, NA18536, NA18622, NA19443, HG00096, NA18623, NA19471, HG01048, NA19444, NA18617, HG00692, NA18636, HG01124, NA19083, NA19088, NA19429, HG00149, HG00338, NA18959, HG00533, NA18609, NA11843, NA11831, NA12400, NA18637, NA19075, NA11995, HG00634, HG00243, HG00284, HG01187, NA19700, NA19082, HG00662, NA19190, NA19055, NA19247, NA19360, NA19313, NA19380, NA19395, NA19080, HG01465, NA19129, NA19189, NA18633, HG00653, NA19374, HG00640, NA19384, NA20790, NA19102, NA18510, NA19002, HG00501, HG00672, HG01170, HG01069, HG00524, NA19720, HG00534, HG00525, NA19328, NA18910, NA19711, NA18940, NA12891, NA18619, NA18987, HG00427, HG01137, NA18597, HG00590, HG00595, NA19138, NA19376, NA18983, HG00443, NA18599, NA18907, NA18909, NA18567, NA19391, NA19723, NA19078, HG00611, HG01334, HG00650, NA06984, NA18538, NA19394, NA18565, HG00138, HG00663, NA12156, NA19116, NA18631, NA19431, NA18560, NA18989, HG00580, NA19719, NA18544, NA19434, HG00448, NA18602, NA19818, HG00608, NA19099, NA19446, HG00654, HG01390, NA18614, NA19452, HG00530, NA18548, NA11992, NA12003, NA19064, NA18944, NA19063, NA12399, HG00656, HG01366, NA18499, HG00422, NA18924, NA19371, NA20543, HG00708, NA18610, NA19070, NA19470, HG00367, NA18984, NA19315, HG00693, NA11932, NA18611, HG00566, NA11829, NA19130, NA19171, NA19240, NA19346, HG00275, HG00625, HG00690, NA18532, NA18549, NA18574, NA18853, HG00183, HG00442, HG01374, HG00473, NA19350, NA18908, NA19079, NA19473, NA20524, HG00684, NA18615, HG00476, NA19448, HG00671, NA19087, NA19092, NA19468, HG00702, HG00704, NA18555, NA19007, NA19456, HG00136, NA18519, NA19065, NA07000, NA19058, NA19466, HG00531, NA18980, HG01067, NA18553, NA19439, HG00361, NA18964, HG00313, NA19445, NA19625, HG00152, NA19436, HG00318, HG00536, HG00607, NA07037, NA20522, HG01250, HG01075, NA18561, NA18933, NA19404, HG01055, NA18952, NA07056, NA18612, HG00245, NA19783, HG00449, NA19060, NA18550, NA18570, NA19003, NA19072, HG00707, NA19455, NA06989, NA12340, NA19430, NA19317, NA19451, NA19010, NA19338, NA20342, HG00326, NA18573, HG00553, NA19461, HG00701, NA19834, HG00651, NA19004, HG00557, HG00578, NA19108, HG00331, HG00146, NA18488, NA19355, NA19474, NA19084, NA12341, NA19467, NA18873, NA19147, HG00479, NA19438, NA19654, NA20586, NA18632, HG00635, HG01254, NA18559, NA19726, NA19428, NA18912, NA18934, NA18508, NA19054, NA19059, NA20515, HG00472, HG00583, NA18566, NA11994, NA19057, NA19068, HG00638, NA12155, NA18576, NA18960, HG00180, NA18563, NA18618, NA07357, NA19900, NA20757, HG00610, NA20801, NA19396, NA18856, HG00141, HG00628, NA19397, NA18638, NA19440, NA11933, NA20541, HG00419, NA12829, NA19256, NA18973, NA18982, NA19056, NA19679, HG00403, HG00584, NA19316, NA18539, NA19213, NA19676, HG00436, HG00620, NA19377, NA18620, NA19172, NA19703, NA19375, NA19393, NA20512, HG00629, NA18498, NA20826, NA18486, HG00559, NA06986, NA20344, HG00260, NA18502, HG00560, NA19731, NA18558, NA18941, NA19901, NA18504, NA20814, NA20818, HG00478, NA18487, NA18564, NA18942, NA19347, NA19332, NA18613, HG00513, NA18988, HG00329, HG00512, HG00246, NA19074, NA19159, NA19382, NA18579, NA18985, NA19462, HG00589, NA18945, NA18606, NA18543, NA18999
Known GenesCDK5RAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663480
Frequency
Sample Size1151
Observed Gain0
Observed Loss449
Observed Complex0
Frequencyn/a


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