A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670949



Internal ID9937054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185393184..185393758hg38UCSC Ensembl
Outerchr4:185393145..185393815hg38UCSC Ensembl
Innerchr4:186314338..186314912hg19UCSC Ensembl
Outerchr4:186314299..186314969hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6016445, essv5546468, essv5863631, essv5704109, essv5455903, essv5679675, essv5967551, essv6319818, essv5683851, essv5529450, essv5816338, essv6260565, essv5725517, essv5715523, essv6528787, essv6128375, essv6028499, essv6184497, essv5547868, essv6526679, essv6161209, essv5431947, essv6506960, essv5756835, essv6158492, essv5445764, essv6090847, essv5716011, essv6355389, essv6214918, essv5607997, essv5500471, essv6450890, essv5596908, essv6043046, essv5501231, essv6418411, essv6051960, essv5641368, essv5634314, essv5446961, essv5954368, essv6424329, essv6001983, essv6372379, essv6205260, essv6208818, essv5906139, essv5738212, essv6325619, essv6291600, essv6373822, essv5631495, essv6597362, essv5558338, essv5818173, essv6177622, essv5672661, essv5565209, essv6506655, essv5937692, essv6353919, essv6311801, essv6595493, essv6505708, essv5786088, essv5786955, essv6542836, essv6083698, essv6126744, essv6056884, essv6148161, essv6104372, essv6307941, essv5754964, essv6380261, essv5902907, essv6451688, essv6008336, essv6321989, essv5923230, essv6092142, essv5618458, essv6463929, essv6540201, essv6403481, essv5954122, essv6293692, essv5995951, essv6570826, essv6411168, essv6588396, essv6059105, essv6265879, essv5931430, essv5458330, essv6465846, essv5711097, essv5701525, essv6500267, essv6120644, essv6237635, essv6271278, essv5807225, essv5434063, essv6555486, essv6554021, essv6363876, essv6105407, essv6314320, essv6486507, essv5610840, essv5677424, essv6331321, essv6215573, essv6377101, essv5814702, essv6372090, essv5668700, essv5466712, essv6573412, essv5841888, essv5577742, essv5526730, essv5564010, essv5777151, essv5608899, essv5763623, essv5594323, essv5806305, essv6215880, essv6569153, essv6586140, essv5786279, essv5701383, essv5741273, essv5887332, essv5827564, essv5440542, essv5884523, essv6526088, essv6194329, essv5640625, essv5642988, essv6137078, essv6070650, essv6383222, essv5539638, essv5407927, essv6056969, essv5850635, essv5900993, essv6034594, essv5434406, essv5557503, essv6149946, essv6564855, essv6460223, essv5728998, essv5408982, essv6307448, essv6376250, essv6336594, essv6004513, essv6493934, essv6284185, essv5482896, essv6098551, essv5861366, essv5640495, essv6148242, essv5869821, essv5643849, essv6562710, essv5523047, essv6488504, essv6345102, essv6444108, essv6189278, essv6527437, essv6028128, essv5815307, essv6374543, essv6102000, essv5396319, essv5638493, essv6088550, essv6532588, essv5424062, essv5790152, essv5738369, essv6419208, essv6514379, essv5624735, essv5460302, essv6379876, essv5441749, essv6400033, essv6511968, essv5965963, essv5675775, essv5400137, essv5446264, essv5858288, essv6275502, essv5828724, essv5739291, essv5958662, essv6253964, essv6189388, essv6103200, essv6227310, essv5922406, essv5937285, essv6068644, essv6547667, essv5444921, essv6295312, essv6523801, essv5853306, essv5973915, essv6152351, essv6385145, essv5943880, essv5627268, essv5912381, essv5867613, essv6576848, essv6350114, essv5497398, essv6221782, essv6367819, essv5504987, essv5900766, essv5880157, essv6249118, essv6498509, essv5792100, essv6000060, essv5908934, essv6095067, essv6095736, essv6007917, essv5408323, essv5929514, essv5634894, essv6328673, essv5398975, essv6102315, essv5603433, essv6442400, essv6011160, essv6017800, essv6524742, essv6001253, essv5528430, essv6185250, essv6405228, essv6077838, essv5602973, essv6378898, essv5684942, essv6342692, essv6347132, essv5985491, essv6189564, essv5606975, essv6144578, essv5771471, essv5691956, essv5725009, essv5575000, essv6188774, essv6076114, essv5741123, essv5710265, essv6452952, essv6296916, essv5943365, essv5703512, essv6577070, essv5634010, essv5937003, essv5887567, essv6406089, essv5539633, essv6480294, essv5940595, essv6145088, essv5972350, essv6531916, essv5979675, essv5912764, essv6222424, essv6288936, essv6276047, essv6412177, essv5480344, essv6387881, essv6146895, essv6465541, essv5726342, essv6429348, essv6580395, essv6486024, essv5494720, essv6587874, essv6416232, essv6197288, essv5795667, essv5487657, essv6170393, essv6547156, essv5802665, essv5471744, essv5839668, essv6363593, essv5920083, essv6250159, essv6502696, essv6036471, essv5398279, essv5538662, essv6387057, essv6090602, essv6455633, essv5807878, essv6040439, essv5948733, essv6473829, essv6383066, essv5530585, essv5510374, essv5635680, essv6083715, essv6008406, essv5444435, essv5730454, essv6073167, essv6598093, essv5493094, essv6047516, essv6182151, essv5680448, essv6561283, essv5713097, essv6412842, essv6405309, essv5480583
SamplesNA12383, NA20761, HG00650, NA20529, NA12842, HG00143, HG01462, HG00608, NA18621, NA20766, NA12286, HG00671, NA19066, HG00242, NA18508, NA19399, NA18565, NA12843, HG01066, NA20816, HG00181, NA19359, NA19355, NA20332, NA19684, NA18530, HG00737, HG00115, HG01051, NA12399, NA20806, NA18988, NA18627, HG00337, HG00271, NA19107, HG00663, NA20814, NA18563, HG00641, HG00138, NA19379, NA18940, HG00589, NA18597, NA20798, NA19678, NA20756, NA18567, NA19062, NA18574, NA07048, NA20768, NA18571, HG00537, HG00311, NA19079, HG00158, HG00512, HG00281, NA20759, NA19720, HG01080, NA20775, NA12156, HG01519, NA20812, NA11932, NA11994, HG00534, HG00705, HG00160, NA18990, NA18557, HG01048, NA18985, NA20757, HG01550, HG00253, NA19789, NA19921, HG01124, HG00154, NA12489, HG00731, NA20800, HG00443, NA18538, HG00266, NA19056, NA19670, HG00557, HG00245, NA20810, NA20760, HG00556, NA18948, NA18534, NA12234, HG00692, NA18548, NA20525, NA18573, HG00690, HG00479, NA20581, NA12829, NA06989, HG01101, NA18553, NA19059, NA18555, HG00146, NA18963, NA19682, NA18570, HG00126, NA12546, HG01107, NA18953, NA19003, HG00258, NA18533, HG00336, NA18564, NA19747, NA18628, HG00734, NA20520, NA19010, HG01357, NA20530, NA20527, NA19835, NA19679, NA19470, NA19428, NA18943, NA19783, NA18615, NA18610, NA19785, NA19223, NA19779, NA19716, HG00267, NA18636, HG00310, NA20786, HG00112, HG00280, NA11843, NA19780, NA18983, NA20503, NA18989, NA11892, HG01111, NA12006, NA20585, NA12154, NA19065, NA18612, NA19074, NA18487, NA19676, HG01516, HG00626, HG01060, HG00114, HG01441, NA19648, NA11830, NA19700, HG01098, NA19055, HG00536, NA19466, HG00361, HG01359, NA18980, NA18561, NA20531, NA18599, HG01389, NA20532, NA12045, HG00640, HG01465, HG00103, NA18545, NA19393, NA20805, NA19057, HG01456, NA18606, NA20346, NA18526, NA12400, NA12155, HG00327, NA19068, NA19076, NA20796, NA19005, HG00501, NA19762, HG00448, NA20586, NA19723, NA18982, NA18619, HG00330, NA12348, HG00610, NA19649, HG00346, HG01354, NA20540, HG00369, HG00270, NA20513, NA19681, HG01110, NA12282, HG00277, NA19651, HG00120, NA19383, HG00683, HG01170, HG00262, NA19719, NA18560, NA19087, NA12889, HG01440, HG00427, NA20811, NA18520, HG00637, NA20533, NA18973, HG00530, NA18638, NA11993, HG00108, NA20818, NA11831, NA10847, HG01353, HG00313, HG00133, HG01136, NA18613, NA19657, HG00176, NA19082, NA19707, NA20787, HG00145, HG01384, NA12342, NA12003, HG00428, NA20809, HG00653, NA18956, NA20536, NA18991, HG00475, HG00436, HG00320, NA19788, NA19776, HG01390, HG01094, HG01073, NA19000, NA19449, HG00373, NA20538, NA12249, HG01383, HG00117, HG00157, NA12827, HG00276, NA20828, NA19756, NA18536, NA19675, NA19436, NA18576, NA20765, NA18546, NA19685, HG00476, NA20773, NA18542, NA20801, HG00119, NA18535, NA19834, NA19321, NA18961, NA18952, NA18543, NA18950, NA19732, NA20804, NA07051, NA19786, HG00319, NA20803, NA07037, HG00256, NA19085, HG00269, NA19078, HG00707, HG00672, HG00578, NA20582, HG00329, HG00656, NA19713, HG00123, NA12830, NA20807, HG00698, HG00131, NA19726, NA19213, HG01251, NA19661, NA18984, NA19755, NA19004, NA18488, NA07000, HG01112, HG01097, HG00554, NA18549, NA18622, HG00437, NA18965, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670949
Frequency
Sample Size1151
Observed Gain0
Observed Loss349
Observed Complex0
Frequencyn/a


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