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 Variantsessv5673562, essv6577244, essv6505411, essv5578955, essv6455619, essv5993634, essv6485608, essv6310938, essv6036769, essv6034139, essv5625414, essv6536627, essv5920203, essv6266261, essv6152749, essv6160852, essv6112617, essv6038678, essv5775599, essv5926646, essv5780306, essv6587452, essv5879697, essv6415717, essv6117521, essv5800326, essv5977168, essv5932652, essv5785723, essv6008215, essv6116002, essv5680183, essv6537463, essv5738903, essv5554014, essv6237075, essv6131582, essv6319536, essv5671601, essv5908276, essv5658999, essv5989358, essv6218711, essv6182722, essv6344437, essv6220703, essv5809045, essv5536530, essv6591560, essv6300438, essv6075570, essv6393345, essv5951848, essv6331440, essv6116639, essv6051005, essv6370070, essv5642929, essv6118696, essv6481907, essv5986900, essv5672264, essv5456984, essv6447346, essv5547158, essv5647123, essv5559922, essv6253367, essv5941052, essv5922361, essv6589970, essv6524716, essv6333127, essv6044671, essv6139953, essv6459114, essv5794853, essv5636940, essv6125477, essv5687382, essv6071879, essv5876968, essv5873709, essv5810958, essv5998062, essv5685180, essv5540825, essv5757756, essv5481284, essv6159921, essv6586354, essv5541593, essv6344724, essv5872140, essv5425025, essv6200248, essv5643450, essv6234807, essv6224720, essv5420118, essv6542364, essv6080914, essv5847846, essv6520394, essv5683978, essv6212469, essv5510603, essv5966401, essv6551376, essv5523764, essv6165417, essv5718179, essv6194668, essv6391450, essv5464480, essv5915429, essv5829100, essv5682062, essv6112247, essv6408204, essv6480693, essv6149211, essv6386879, essv5539293, essv5958741, essv6227290, essv6391372, essv6236632, essv5647809, essv6256000, essv6258878, essv5589669, essv6589063, essv6446966, essv6325125, essv6038441, essv5817720, essv6334059, essv6475452, essv6238421, essv5749610, essv6438147, essv6081148, essv5910034, essv6365154, essv6173343, essv5856557, essv5985542, essv5465863, essv6589391, essv6182235, essv5596753, essv6499894, essv5937581, essv5413636, essv5515181, essv6507836, essv5943102, essv5731950, essv5691707, essv6113955, essv6295989, essv5616912, essv6104796, essv6215258, essv6193856, essv6383386, essv6182337, essv6500517, essv6368947, essv5913228, essv5745028, essv6085665, essv6034056, essv5723006, essv6162787, essv5697385, essv5650719, essv6356494, essv5425049, essv5458435, essv6584773, essv6422866, essv6042104, essv6489092, essv6047952, essv5709375, essv5897084, essv5588212, essv5442046, essv6271764, essv6491328, essv5490742, essv5920479, essv6344945, essv6196518, essv5404039, essv5650736, essv5689994, essv6056734, essv5687075, essv5664236, essv5699598, essv5584704, essv5463795, essv5740487, essv5997293, essv5778182, essv6099809, essv6410867, essv5991818, essv5690641, essv6550611, essv5639373, essv6314526, essv5759614, essv5410179, essv6066346, essv5719589, essv6104397, essv6317769, essv5751790, essv6119846, essv6157328, essv6107270, essv6566461, essv5573465, essv6393309, essv6307096, essv5537384, essv5439391, essv5844089, essv5696836, essv5614532, essv6084659, essv6365977, essv6264754, essv5445399, essv5422435, essv5787163, essv5624527, essv6267113, essv5746267, essv5639374, essv5690923, essv6347196, essv5743381, essv5733239, essv5581673, essv5946095, essv6152079, essv5864593, essv5882940, essv6320241, essv5597505, essv6094519, essv5628775, essv5538647, essv6484586, essv6248627, essv5582511, essv5808264, essv6421906, essv6526438, essv5905539, essv5871167, essv5806892, essv6092211, essv5836259, essv5836308, essv5607368, essv5900215, essv6319035, essv5639169, essv6420802, essv6360196, essv6567903, essv5408742, essv6240106, essv6343958, essv5932370, essv6453700, essv6223761, essv6300550, essv5414388, essv5467146, essv5798642, essv5624563, essv5719181, essv6420561, essv5479681, essv5864505, essv6202679, essv6324672, essv5697109, essv6556612, essv5842243, essv6411717, essv6358324, essv5515252, essv6565088, essv5707168, essv5609035, essv5983011, essv5959486, essv6129762, essv6289546, essv5980078, essv5903384, essv5981501, essv6469256, essv6465268, essv6083584, essv5844960, essv6055686, essv6568923, essv5467205, essv6334847, essv5963560, essv6580997, essv6538134, essv5661891, essv5472888, essv5719838, essv5424878, essv5584465, essv6309508, essv6399231, essv6282387, essv5623203, essv6231514, essv6042910, essv6196554, essv5967020, essv6539822, essv5506577, essv6558941, essv6313934, essv6149190, essv6575264, essv5683248, essv6176047, essv5779483, essv5875309, essv5990802, essv5799597, essv5993036, essv5526617, essv6372870, essv6216527, essv6253118, essv5857269, essv5810858, essv5449728, essv6511482, essv6192794, essv5989266, essv5573700, essv6432254, essv6171567, essv5969328, essv5655719, essv5541029, essv5468706, essv5558664, essv5411568, essv5942600, essv5713218, essv6497028, essv5883969, essv6597272, essv6254756, essv6146391, essv6143903, essv6279411, essv5631125, essv6563102, essv5597564, essv5409860, essv6491643, essv6328773, essv6077875, essv6292331, essv5665506, essv6088796, essv6052904, essv5869149, essv5921592, essv5472160, essv6398190, essv6148888, essv5933089, essv6128655, essv5546595, essv5887918, essv5481584, essv6457567, essv5919410, essv5938065, essv5450420, essv6315902, essv5801796, essv5646346, essv5667527, essv6135516, essv6020154, essv5807822, essv6524982, essv5762798, essv6367302, essv6085848, essv5726866, essv5961844, essv6290515, essv5930044, essv5719198, essv5439157, essv5527525, essv5509565, essv6062909, essv5752243, essv5784140, essv6342323, essv6162783, essv6199574, essv5412524, essv6326288, essv6253268, essv6091648, essv6288387, essv6414149, essv6386334, essv5431131, essv5583080, essv5716330, essv6592356, essv6424897, essv6239667, essv5533603, essv5855340, essv5602015, essv6486209, essv5468095, essv6025403, essv6309093, essv6290042, essv5654941, essv6155864, essv5484742
SamplesNA18502, HG00189, HG00650, HG00442, NA19058, HG00608, NA18621, NA11920, NA18999, NA20512, NA18504, NA19377, NA18530, NA19920, NA18633, NA19446, HG00138, NA19171, HG00589, NA19315, NA18558, NA18960, NA18618, NA18574, NA11918, NA19384, HG00537, HG00243, NA19079, NA18949, HG00512, NA20759, NA19720, HG00335, NA19172, NA19239, NA18985, HG00326, NA20757, NA20515, NA18951, NA18538, NA19070, NA19056, HG00657, NA19081, HG00692, NA19064, NA18548, NA18907, NA19084, HG00690, HG00404, NA12829, HG00331, NA19453, NA18532, NA06989, NA19059, HG01334, NA19452, HG00463, NA19395, NA19625, HG00611, NA19440, NA19256, NA19434, NA18564, NA18628, HG00580, NA19444, NA19331, NA19010, NA19470, NA19428, NA19083, NA18943, NA19360, NA12763, HG00662, NA18615, NA19328, HG00614, HG00513, HG00478, NA18631, NA18609, NA19102, NA18873, NA20826, HG00595, NA18989, NA19129, HG00628, NA19065, NA18612, NA19429, NA19074, NA18487, HG00581, NA19431, HG00096, NA19700, NA19055, NA19397, NA18924, NA19466, NA11995, NA18980, NA18561, NA11933, NA18599, HG01374, NA18603, NA19092, HG00699, NA19819, NA12004, NA12058, NA20346, NA19190, NA12400, NA12341, NA19068, HG01250, NA18550, NA18489, HG00702, NA19723, NA18635, HG00634, NA18942, HG00610, NA19313, NA19054, NA18498, HG00590, NA20541, HG01170, NA19719, NA19371, NA18560, NA19075, NA18617, NA19471, NA19087, NA19159, NA19002, NA19189, NA18520, HG00338, NA18908, NA18973, HG00530, HG00419, NA19451, NA18638, HG00464, NA20818, NA19007, HG00149, HG00560, NA19247, NA18613, HG00629, HG00183, NA19082, NA20524, NA19077, HG00428, NA19462, NA19347, NA19391, HG00584, HG00500, NA18910, NA20344, NA18499, NA18853, HG00141, NA18536, NA18576, NA20296, HG00476, NA20801, NA18535, NA19834, NA19108, NA18952, NA18543, NA18559, HG00565, NA18950, HG00136, HG00638, HG00607, HG00319, NA20803, NA19818, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, NA19438, NA19472, HG00329, NA18987, NA19726, NA18984, HG00472, NA07056, NA18505, NA19004, NA18549, HG00437, NA19394, HG00542, NA19703, HG00671, NA18508, HG00559, NA18565, NA19350, NA19359, NA19355, NA12340, NA18959, HG00737, NA18616, HG00449, HG00654, NA19443, HG01051, NA18510, NA12399, NA18602, HG00693, NA18988, NA18627, HG00663, NA20814, NA18563, NA18940, NA18519, NA19319, NA18597, NA18567, NA19062, NA19130, HG01069, NA12156, NA11932, NA11994, HG00534, HG00705, NA18557, HG01048, NA20342, HG00253, NA18539, HG01124, HG00443, HG00557, HG00245, NA18933, NA19455, HG00583, HG00275, NA18579, NA18871, NA18534, NA19654, HG00284, NA18573, NA19461, NA11919, HG00651, HG00531, HG00479, HG00684, NA18912, NA18553, NA19099, NA18555, HG00152, HG00146, NA18963, HG00704, NA19469, HG00246, NA18570, HG01075, NA19012, NA18953, NA19375, NA19003, NA18632, HG00155, NA19147, HG00625, HG00353, NA19072, NA20790, HG00473, NA19679, NA19311, HG01137, NA19783, HG00418, NA18610, HG00620, NA18501, NA19468, NA19474, NA19093, NA18636, NA11843, NA19116, NA19080, NA19711, NA19900, NA18983, NA19430, NA19316, NA19312, NA19463, NA18623, NA19063, NA12154, NA19346, HG00553, NA19676, NA18620, HG00403, NA20543, HG00536, NA11829, HG00361, HG00524, NA19332, HG00640, HG00367, HG00318, NA18486, HG01465, NA19393, NA19057, NA18596, HG00566, NA18606, HG00177, NA18870, NA12155, NA07357, NA18967, NA19374, NA19396, NA20796, NA18944, HG01366, HG00501, NA19382, NA19448, HG01488, HG00448, NA20586, NA18982, NA18619, NA12891, NA11992, NA19088, NA19138, NA18964, NA18611, NA19404, HG01067, NA06984, NA19917, NA19731, HG00422, NA19317, HG01440, HG00427, NA20811, NA19901, NA19456, NA19445, HG00260, NA18614, NA11831, HG00313, NA18544, HG01187, NA18934, NA12003, HG00653, HG00701, NA19236, NA18516, HG00436, HG00533, NA18637, NA18630, HG00619, HG00708, HG00635, HG01390, NA18566, NA19114, NA19449, NA18856, HG00613, HG00525, NA19338, NA19257, NA18945, NA19436, NA18546, NA20522, NA18909, NA19473, NA19435, NA18941, NA19240, NA19380, NA19334, NA19439, NA19467, NA07037, NA19085, NA06986, HG00269, HG00111, NA19060, HG00421, HG00656, HG01254, HG01055, HG00698, HG00131, NA19213, NA18488, NA07000, HG00554, HG00180, NA18622
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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