A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665029



Internal ID9584448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85643232..85643563hg38UCSC Ensembl
chr4:86564385..86564716hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5647537, essv5759385, essv5927118, essv6385362, essv5745254, essv6130081, essv5723926, essv5431343, essv6238124, essv6271860, essv5907389, essv5940998, essv5559611, essv5665717, essv5940449, essv6386705, essv6482332, essv5467833, essv5853917, essv6171677, essv5456371, essv6026285, essv6102304, essv6158963, essv5894268, essv5472151, essv6560957, essv5932744, essv6080023, essv5469038, essv5539762, essv6077641, essv5476958, essv6459327, essv5610587, essv6097617, essv5665046, essv6574943, essv5545382, essv5445308, essv5799600, essv6172023, essv6579355, essv6042877, essv5728627, essv6346134, essv5930505, essv6129860, essv5748135, essv6327573, essv6102271, essv6526374, essv5453242, essv6127137, essv6574265, essv6352274, essv5570276, essv6513494, essv6114198, essv6102552, essv6139141, essv5458964, essv5821794, essv5638082, essv5439864, essv5791649, essv5814017, essv6113021, essv6259281, essv6423395, essv5549394, essv5745119, essv5926319, essv5933639, essv5709105, essv5950101, essv6231519, essv6041488, essv6260122, essv6546162, essv5576642, essv6084613, essv5628739, essv5815697, essv5849695, essv5989376, essv5517610, essv6555006, essv5881193, essv5427916, essv6389368, essv5505443, essv5703108, essv5777864, essv6356811, essv5414689, essv6014399, essv6327344, essv6195927, essv5668803, essv6000247, essv6066280, essv5595498, essv5798616, essv5401681, essv6527017, essv5422590, essv6260952, essv5750558, essv5895141, essv6331541, essv6561094, essv5550028, essv5795362, essv5952727, essv6061789, essv5882779, essv6469075, essv6365346, essv5661379, essv6090244, essv5405935, essv5499648, essv5499553, essv5524683, essv6373562, essv6080890, essv5981667, essv6592489, essv5406631, essv6170910, essv6189764, essv5728010, essv5620115, essv6339635, essv5518574, essv5887063, essv6161292, essv6327528, essv6431760, essv5712946, essv5915688, essv6089113, essv6100081, essv6314084, essv5958413, essv6456310, essv6465976, essv6217818, essv6318459, essv5743530, essv5621299, essv6008268, essv5816909, essv6009452, essv6247339, essv5887102, essv6386682, essv6411982, essv5664085, essv6473976, essv6583272, essv5695109, essv5921086, essv5483270, essv6521558, essv6256489, essv5816111, essv6009148, essv5947034, essv6162198, essv6296612, essv5910677, essv5890418, essv5440311, essv5801768, essv5913303, essv6210584, essv6581324, essv5444905, essv5599345, essv5944256, essv5992399, essv6159310, essv6396342, essv6419864, essv6543062, essv5712359, essv5755338, essv5736723, essv6165243, essv6374424, essv6272206, essv6480661, essv6571466, essv5421744, essv5896315, essv6385903, essv6478103, essv6226294, essv6379436, essv6436149, essv5753925, essv6590728, essv5397687, essv5775898, essv6310356, essv5617033, essv5701218, essv5527938, essv5564660, essv5780585, essv6362203, essv5790540, essv6566003, essv5964936, essv5789659, essv6180552, essv6289837, essv6453035, essv6484105, essv6110682, essv6257960, essv6407289, essv5869573, essv6191232, essv6215555, essv6373057, essv6409748, essv5910445, essv6061008, essv5775578, essv6259665, essv6495591, essv6051641, essv6012783, essv6586504, essv6104761, essv6521564, essv5395811, essv5398956, essv6500174, essv5722558, essv5778917, essv5866875, essv5961852, essv6263067, essv6477279, essv6499390, essv6551279, essv5468305, essv5687239, essv5836880, essv6546955, essv6246336, essv6397140, essv6518222, essv5899285, essv6425601, essv5707312, essv6351572, essv6474222, essv5952688, essv5431477, essv5523801, essv6320516, essv5810878, essv5975979, essv6203966, essv5952765, essv6097289, essv5531671, essv5809461, essv6597587, essv5827403, essv5644944, essv5893445, essv5626402, essv6006527, essv6202185, essv5421892, essv5647588, essv6213327, essv5515260, essv5805056, essv5932880, essv6172144, essv5949235, essv5970375, essv6560618, essv5718671, essv5834448, essv5637470, essv5918328, essv6170632, essv6299241, essv6482488, essv6511164, essv5554357, essv5585659, essv5853550, essv5738304, essv6492654, essv6575367, essv5688642, essv5997816, essv5436095, essv5762938, essv5940733, essv6094734, essv5990761, essv5689106, essv6191850, essv6496334, essv6150313, essv6183500, essv5967231, essv6004408, essv6506949, essv5717785, essv5950046, essv6299583, essv6494552, essv6507095, essv5876408, essv5770542, essv5771136, essv5595081, essv5437869, essv5571173, essv5966441, essv5782101, essv5607612, essv6232644, essv6253606, essv6061069, essv5451368, essv6177454, essv6253940, essv6397441, essv6535057, essv5626396, essv5943395, essv5675211, essv6091990, essv5492526, essv5950658, essv6237493, essv6213160, essv6383852, essv5735130, essv5905328, essv6021360, essv6000546, essv6220914, essv5426804, essv5820688, essv6087454, essv6215178, essv6139573, essv5628228, essv6451420, essv5589418, essv5712529, essv6014218, essv6158462, essv5589587, essv5407037, essv5517738, essv5899820, essv5480855, essv6059149, essv6308134, essv5543358, essv6308016, essv6570525, essv5695477, essv6385923, essv6207069, essv5792437, essv6030929, essv5640920, essv6291868, essv6596243, essv5867454, essv6421656, essv6120607, essv6287522, essv5407548, essv5531934, essv6490329, essv6051662, essv5867532, essv6442243, essv5421007, essv5618121, essv5827653, essv5899406, essv5430959, essv5970851, essv5520739, essv5812718, essv6075272, essv6401609, essv6056707, essv5483040, essv6228080, essv6310506, essv6254989, essv5495997, essv5949756, essv6560154, essv5516981, essv6493486, essv5924703, essv5777251, essv6043747, essv5922108, essv5434390, essv6307618, essv6572218, essv6283976, essv5530897, essv6244633, essv5443232, essv5929250, essv6171559, essv5786879, essv6215869, essv6173316, essv5583177, essv6179408, essv6118052, essv6161728, essv6207473, essv5499438, essv5662368, essv6488899, essv6447566, essv6550338, essv5636307, essv5612628, essv5934173, essv6338897, essv5760034, essv6589154
SamplesHG00613, HG01441, NA19012, NA18621, HG00309, HG00157, NA12154, HG00537, HG00252, NA18605, NA18520, NA18595, NA18951, NA18534, NA18530, NA18535, NA18630, NA18871, HG00418, NA19081, NA19819, HG00551, HG00705, HG00437, HG00500, HG01173, NA11920, HG01083, HG00186, HG00464, HG00131, NA20544, NA20796, HG00565, NA18526, NA20535, NA20531, NA11918, HG01079, NA10847, NA18545, NA18603, HG00463, HG00657, HG00614, HG01051, HG01365, HG00577, NA18953, HG00428, HG00475, NA18947, HG00542, HG01174, NA18541, NA18546, HG00683, HG00698, HG00581, NA18963, NA19685, HG00187, HG00404, HG00280, HG00335, HG01134, NA19682, HG00319, HG00737, HG00699, NA18557, NA12287, NA18943, NA18950, HG01171, NA18596, NA18628, NA18949, HG00269, NA19077, NA19062, HG01550, HG00556, HG01148, NA20505, NA11919, NA12763, NA19085, HG01384, NA18967, NA18627, NA19076, NA19390, HG00421, HG01378, NA18635, NA19917, NA18536, NA19675, NA18622, HG00259, NA18623, HG01061, NA20530, NA18990, HG00692, NA18636, HG01124, NA18592, NA19083, NA19088, NA12273, HG00315, NA12761, NA18956, NA18959, HG00533, NA18609, HG00125, NA11831, NA18637, NA19075, NA18916, HG00634, NA18593, HG00276, HG00284, HG01187, NA19700, NA19082, HG00662, NA12751, NA19000, NA19055, NA19247, HG01437, NA19080, NA19129, NA19372, NA18633, HG00653, NA20760, HG00732, HG00325, NA19716, HG00185, NA18986, HG00263, NA20753, NA19005, NA18510, NA19002, HG00501, HG00672, HG01170, HG00249, NA11892, NA18961, HG00277, HG01351, HG00740, HG00524, HG00534, HG00525, HG01383, NA19789, NA19777, NA18940, NA18619, NA18987, NA18582, NA18999, HG00427, HG01137, NA18597, HG00590, HG00595, NA18552, NA19376, NA20534, NA20756, NA18983, HG00443, NA18599, NA18567, NA19723, NA19078, HG00611, HG00650, NA18538, NA18565, NA19009, NA20518, HG00138, HG00663, NA12889, NA18631, NA18560, NA18989, HG00580, NA18544, HG00448, NA18602, HG00608, NA18577, NA20509, HG00654, HG01390, NA18614, HG00530, NA18548, NA19064, NA20810, HG00123, HG00281, NA18944, NA19063, NA19225, NA12399, NA19399, NA19717, HG00656, NA12842, HG01366, NA18571, HG00422, HG00708, NA18610, NA19070, NA18984, HG00693, NA18611, HG00566, HG01125, NA19240, NA19346, NA20768, HG00275, HG00324, HG00625, HG00690, NA12717, NA20528, NA18532, NA18549, NA18574, HG00442, HG01374, HG00473, HG01462, HG01489, NA19079, NA20524, HG00626, HG00684, HG01377, NA18615, HG00336, HG00476, NA20502, HG00671, NA19087, HG00272, HG00345, HG00702, HG00704, NA18555, NA19385, HG00278, NA19007, NA19661, NA19779, NA18519, NA19065, NA19058, NA19746, HG00531, NA18980, HG01354, NA18553, HG00323, NA19137, NA18964, NA19445, NA19625, HG00152, HG01359, HG00536, HG00607, NA12750, NA11930, NA20503, NA20526, HG00344, HG01052, NA18561, NA20506, HG01055, NA18952, NA18975, NA20516, HG00369, NA18612, HG00245, HG00596, NA19783, HG00449, NA19060, NA18550, NA18570, NA19072, HG00707, NA20775, NA18948, HG01492, NA18972, NA20816, NA19010, NA18573, NA18608, NA20786, NA18542, NA19782, HG00270, HG00701, HG01204, HG01461, HG00651, NA19004, HG00557, HG00578, NA11893, HG00331, NA18965, NA19474, NA19084, NA19780, NA12044, NA19147, NA18626, HG00479, NA19654, NA18632, NA20770, HG00244, HG00266, HG00635, HG00543, NA18559, HG00339, NA19067, NA20585, NA18624, HG00250, NA19054, NA19059, HG00472, HG00583, NA18566, HG00337, NA19057, NA19068, HG00140, NA18576, NA18960, NA18563, NA18618, NA07357, NA20504, HG00610, NA18991, HG01047, HG00689, HG00628, NA07048, NA18638, NA19066, NA20765, HG00178, HG00419, NA18547, HG00258, NA12829, NA18976, HG01136, NA18973, NA18982, HG00254, NA19056, NA19663, NA19679, HG00403, NA18634, HG00584, HG00133, NA18539, NA20773, HG00114, NA12006, NA19676, HG00436, HG00620, NA19377, HG00124, NA12046, NA19785, HG00108, NA18537, NA18620, NA18572, NA19703, NA19375, NA20512, HG00629, NA20826, NA18486, HG00559, NA06986, NA19238, NA18502, HG00560, NA19731, HG01073, NA18558, NA18977, NA18941, HG00282, HG01356, HG00478, NA18564, NA18942, NA18613, HG00513, NA18988, HG00512, HG01070, NA18562, NA19074, HG01060, NA18579, NA18974, NA18985, HG00589, NA18945, NA18606, NA18543
Known GenesARHGAP24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665029
Frequency
Sample Size1151
Observed Gain0
Observed Loss446
Observed Complex0
Frequencyn/a


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