A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660897



Internal ID9580316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88760465..88761021hg38UCSC Ensembl
Outerchr4:88759894..88761491hg38UCSC Ensembl
Innerchr4:89681616..89682172hg19UCSC Ensembl
Outerchr4:89681045..89682642hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6451749, essv6205723, essv5666394, essv6156601, essv6401960, essv5675271, essv5584085, essv5498327, essv6245755, essv6145511, essv6124883, essv5916471, essv6543600, essv6206326, essv6438496, essv5580005, essv6253630, essv5879376, essv5963599, essv5972214, essv6506536, essv6251634, essv6123079, essv5488299, essv5846340, essv6352972, essv6164166, essv5491699, essv6344065, essv5979922, essv5684099, essv5484677, essv5654277, essv5738355, essv5835796, essv6106442, essv6067273, essv5432886, essv5849865, essv6354855, essv5605604, essv5585555, essv6105004, essv6327692, essv5810804, essv6597992, essv5959508, essv6361438, essv6390775, essv6392897, essv5498257, essv5823203, essv6021764, essv6312242, essv6480356, essv5435963, essv6066338, essv6038519, essv6332958, essv5651808, essv5863157, essv6501952, essv6587636, essv6055828, essv6517105, essv5791687, essv5501057, essv5895675, essv6434288, essv6512919, essv6501785, essv6016768, essv5518839, essv5622091, essv6325344, essv5874333, essv6013849, essv6551341, essv5827526, essv6214604, essv5464560, essv5838343, essv5405617, essv6032697, essv5501664, essv6184228, essv6382293, essv5407080, essv6396087, essv5991449, essv5450532, essv5916151, essv6524292, essv5480325, essv6348396, essv6375924, essv5574890, essv5982621, essv5419691, essv5535895, essv5909697, essv5630652, essv5758336, essv6469981, essv5812980, essv6011538, essv6189945, essv6256993, essv6331837, essv6556964, essv5662148, essv6084535, essv6562381, essv5993937, essv6487188, essv5732799, essv5992304, essv6094939, essv6318868, essv6509569, essv5713397, essv6271204, essv5953344, essv6144748, essv6212463, essv5624700, essv6024723, essv6088230, essv5950427, essv6524759, essv5840125, essv6089683, essv6421685, essv5808034, essv6196272, essv5516154, essv5981255, essv5707786, essv5763709, essv5505387, essv5597926, essv5565687, essv5733726, essv5855496, essv6487202, essv5800179, essv5985014, essv6359431, essv5594146, essv6258985, essv6268472, essv5543552, essv5932400, essv6384971, essv5825613, essv6171195, essv6310883, essv6165844, essv5680541, essv5814042, essv6018429, essv6520736, essv5473257, essv6361007, essv5569513, essv5974652, essv6213398, essv6294379, essv6320472, essv5713948, essv6068215, essv5931959, essv5889460, essv6151836, essv5434156, essv5943466, essv6502185, essv5982177, essv6539376, essv5730149, essv5808701, essv5518560, essv5629689, essv5675207, essv6339852, essv6356479, essv5429222, essv6554492, essv5626943, essv6464547, essv6437531, essv6155538, essv5836038, essv5943504, essv5867392, essv5923733, essv5641985, essv5601393, essv6247495, essv6289532, essv6326843, essv5530554, essv5935448, essv6285766, essv6490294, essv6148768, essv5490917, essv5562438, essv6096272, essv6105347, essv5648001, essv6071034, essv6373216, essv6419587, essv5887895, essv6341147, essv5727821
SamplesHG00323, HG00613, HG00309, HG00157, HG00313, HG00537, HG00734, HG00252, HG00536, HG00257, HG00182, HG00619, HG00344, HG00418, HG01072, HG01052, HG00100, HG01075, HG00328, HG01055, HG00705, HG00437, HG00500, HG01173, HG00369, HG01083, HG00112, HG00274, HG00731, HG00186, HG00245, HG00464, HG00131, HG00155, HG00736, HG00160, HG00449, HG00707, HG01098, HG01079, HG00463, HG01197, HG00657, HG00614, HG01051, HG00117, HG00428, HG00475, HG00375, HG00542, HG01174, HG00326, HG00148, HG00270, HG01182, HG00106, HG00701, HG01167, HG00698, HG01188, HG00334, HG00581, HG01204, HG00187, HG00651, HG00335, HG00557, HG01101, HG01168, HG00366, HG00578, HG00331, HG00146, HG00319, HG00737, HG00253, HG00699, HG01171, HG00479, HG00269, HG00256, HG00342, HG00592, HG00244, HG00266, HG00115, HG00543, HG00154, HG01107, HG00321, HG00339, HG00158, HG00242, HG00346, HG00250, HG00472, HG00421, HG00583, HG00337, HG00180, HG00259, HG01048, HG01061, HG00231, HG00372, HG00692, HG01183, HG01047, HG00689, HG00141, HG00315, HG00149, HG00338, HG00150, HG00178, HG00125, HG00258, HG00264, HG00174, HG00634, HG00254, HG00276, HG00284, HG00403, HG01187, HG00357, HG00237, HG00343, HG00584, HG00133, HG00114, HG00373, HG00436, HG00159, HG00267, HG00620, HG00124, HG00108, HG00653, HG01191, HG00268, HG01066, HG00732, HG00325, HG00185, HG00263, HG00260, HG01073, HG00239, HG00265, HG00672, HG00273, HG00282, HG01170, HG00232, HG01069, HG00249, HG00116, HG00277, HG00103, HG01080, HG00740, HG00513, HG00329, HG00512, HG00534, HG01070, HG00246, HG01060, HG00377, HG00589, HG00120, HG00151, HG00427, HG00590, HG00595, HG01190, HG01095, HG00611, HG00650, HG00138, HG00663, HG00262, HG00580, HG00118, HG00448, HG00654, HG00530, HG00123, HG00281, HG00285, HG00656, HG00142, HG00422, HG00708, HG00367, HG00275, HG00324, HG00625, HG00641, HG00183, HG00442, HG01102, HG00684, HG00143, HG00336, HG00671, HG00272, HG00345, HG00702, HG00704, HG00271, HG00278, HG00136, HG00531, HG00327, HG00361
Known GenesFAM13A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660897
Frequency
Sample Size1151
Observed Gain0
Observed Loss217
Observed Complex0
Frequencyn/a


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