A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667675



Internal ID9933780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48331683..48334597hg38UCSC Ensembl
chr12:48725466..48728380hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382915
hg192915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930845, essv6557358, essv5971779, essv5850049, essv5679250, essv6536924, essv6567943, essv6173195, essv5454970, essv6450323, essv5750400, essv6508568, essv5938276, essv6542499, essv6470928, essv5800613, essv5697965, essv5488172, essv5882918, essv5728671, essv6078282, essv5595728, essv5509618, essv6109760, essv6443222, essv6575461, essv6469746, essv5533740, essv5808997, essv6157790, essv5898331, essv5814590, essv5728753, essv6547421, essv6034383, essv6413739, essv5892130, essv6335511, essv5780539, essv6314445, essv6555914, essv5986268, essv5831522, essv6524448, essv5671108, essv6476061, essv5794073, essv5968362, essv5921341, essv5539503, essv5959132, essv6535275, essv5399437, essv5951955, essv6016261, essv5761315, essv6480345, essv6243220, essv5950661, essv6422680, essv5428130, essv5765606, essv6102597, essv5692254, essv5602747, essv6037375, essv5467627, essv6524686, essv5650517, essv6480174, essv6392899, essv5931215, essv5406103, essv6027255, essv5871632, essv5405339, essv6421461, essv5738566, essv5717265, essv5405639, essv6270678, essv6574912, essv6437994, essv5781478, essv5608905, essv5677431, essv6157416, essv5726433, essv5552671, essv6513417, essv6463456, essv5851096, essv5718359, essv6115690, essv6108123, essv5746387, essv5498220, essv6333329, essv5928764, essv5675743, essv6099051, essv6364176, essv5693812, essv5996249, essv5849366, essv5656364, essv6298847, essv5796891, essv5608824, essv6281540, essv5442438, essv6314862, essv6144087, essv6325365, essv5744416, essv6470276, essv5990470, essv5548597, essv5809659, essv5706690, essv5628008, essv5857081, essv6009072, essv5589213, essv5631476, essv5664532, essv5598820, essv5797987, essv6330530, essv6115110, essv6592332, essv6402278, essv5682098, essv6075370, essv6458430, essv6062441, essv5866894, essv6539834, essv5482983, essv6298478, essv5532033, essv5460210, essv5408569, essv5499745, essv5505733, essv5801246, essv6009302, essv5935707, essv6263058, essv6027204, essv5944264, essv5654347, essv6145626, essv5784143, essv6538327, essv6593149, essv5976240, essv5687540, essv5500443, essv6156795, essv5462984, essv6161903, essv6313031, essv6240658, essv6453474, essv5700501, essv5788536, essv6253926, essv5921340, essv6057086, essv6032621, essv5854133, essv6028595, essv5752648, essv5699919, essv6239806, essv6180996, essv5422871, essv6460034, essv5458582, essv6549612, essv5817744, essv6152597, essv6137511, essv5467880, essv6131856, essv5471019, essv6363483, essv5632703, essv6170715, essv5589610, essv6102709, essv5441853, essv6206816, essv6082384, essv5673119, essv6055147, essv5705167, essv5408391, essv6442246, essv6595941, essv5846897, essv5583091, essv5551864, essv6206930, essv5475216, essv6551204, essv5938905, essv5676528, essv6198459, essv6080762, essv5473559, essv6271617, essv5568439, essv5704966, essv6507912, essv5648317, essv6573997, essv5996797, essv6069439, essv5748106, essv5749844, essv6541521, essv5800448, essv6277409, essv5911034, essv5838838, essv6396242, essv5526548, essv6242665, essv5650472, essv5840026
SamplesNA12717, HG00143, HG00142, NA12286, NA20508, NA19204, NA12273, NA20783, NA11920, HG00257, HG01066, NA20816, HG00244, NA19350, NA12751, NA19684, NA19377, HG01051, HG00261, HG00271, NA12813, HG01350, HG00122, NA20774, HG01168, NA20795, NA07048, NA11918, NA07347, NA20768, HG01365, HG00185, HG00311, HG00243, NA11930, NA20759, NA20539, NA19720, HG01080, NA20518, HG00148, NA20775, NA12156, HG00156, NA20812, NA11932, HG00160, HG00118, HG01198, HG01133, HG00326, NA20757, HG00253, NA20753, HG00154, NA20535, HG00268, HG01171, HG00282, HG00245, NA12878, NA20810, NA19717, HG00263, HG00275, NA20519, HG01149, HG00740, NA20525, HG01102, HG00284, NA11919, HG00690, NA20581, NA12829, NA11893, HG00331, HG01101, HG00140, HG00144, HG00146, NA12144, NA19318, HG00246, HG00126, NA19625, HG01107, HG01075, NA12043, HG01148, NA20799, NA19652, HG00155, HG00265, HG00734, NA20530, NA20527, HG01375, NA20792, HG00237, NA19679, NA19428, HG01137, HG00116, NA12763, HG01489, NA06994, NA19785, HG00259, HG00342, NA19716, HG00267, HG00112, NA11843, NA19711, HG00377, NA11892, HG00171, NA12006, NA12154, HG01437, NA11832, NA20772, NA19676, HG01060, HG00114, NA11830, HG00249, NA11995, NA11829, HG01359, HG01052, HG01079, HG01188, NA11933, HG01389, HG00640, HG00318, NA20805, NA12058, NA12155, NA07357, HG01140, NA12413, NA12341, HG00327, NA20537, NA18967, NA20796, HG00251, NA19201, NA20586, NA19723, NA12891, HG00736, NA11992, NA12283, NA20540, HG00247, HG00369, NA20541, NA12761, HG00277, NA12005, NA18874, NA20819, HG01495, NA12889, HG00309, HG00182, NA20811, HG00338, HG00264, NA12748, NA11993, NA11831, HG01183, NA19657, HG00183, HG00176, NA19707, NA20787, NA12342, NA12003, NA19152, HG00190, HG00320, NA20506, NA18976, HG01390, HG01073, NA20538, NA12249, NA12892, HG00117, HG00276, NA06985, HG00141, NA20542, NA19675, HG01204, NA20765, NA20773, NA20801, NA12716, HG00119, HG01190, NA19732, NA07051, NA20785, NA20504, HG00319, NA20516, NA20803, HG00269, HG01491, HG00329, NA12749, NA19713, HG00174, NA12830, NA20807, NA19726, NA18972, NA20528, HG00252, NA07056, HG00345, NA18549, HG01191, HG00180, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667675
Frequency
Sample Size1151
Observed Gain0
Observed Loss232
Observed Complex0
Frequencyn/a


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