A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596068



Internal ID6636342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46762087..46809669hg38UCSC Ensembl
chr3:46803577..46851159hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3847583
hg1947583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11000802, essv11000745, essv11000411, essv11000716, essv11000534, essv11000575, essv11000597, essv11000457, essv11000746, essv11000455, essv11000552, essv11000428, essv11000641, essv11000684, essv11000608, essv11000599, essv11000772, essv11000623, essv11000770, essv11000590, essv11000694, essv11000640, essv11000555, essv11000624, essv11000681, essv11000503, essv11000429, essv11000618, essv11000505, essv11000672, essv11000775, essv11000648, essv11000496, essv11000615, essv11000418, essv11000798, essv11000605, essv11000587, essv11000760, essv11000408, essv11000877, essv11000824, essv11000908, essv11000784, essv11000498, essv11000843, essv11000619, essv11000548, essv11000424, essv11000459, essv11000470, essv11000625, essv11000495, essv11000757, essv11000876, essv11000451, essv11000509, essv11000911, essv11000864, essv11000413, essv11000441, essv11000904, essv11000899, essv11000673, essv11000701, essv11000699, essv11000643, essv11000530, essv11000679, essv11000768, essv11000588, essv11000490, essv11000753, essv11000644, essv11000612, essv11000796, essv11000834, essv11000601, essv11000833, essv11000723, essv11000896, essv11000539, essv11000536, essv11000565, essv11000501, essv11000568, essv11000519, essv11000606, essv11000869, essv11000667, essv11000779, essv11000861, essv11000671, essv11000794, essv11000423, essv11000885, essv11000887, essv11000913, essv11000790, essv11000837, essv11000482, essv11000840, essv11000903, essv11000740, essv11000902, essv11000809, essv11000564, essv11000416, essv11000788, essv11000814, essv11000732, essv11000574, essv11000900, essv11000639, essv11000589, essv11000862, essv11000799, essv11000497, essv11000751, essv11000880, essv11000456, essv11000706, essv11000711, essv11000452, essv11000777, essv11000846, essv11000547, essv11000906, essv11000797, essv11000494, essv11000879, essv11000545, essv11000403, essv11000600, essv11000573, essv11000443, essv11000719, essv11000518, essv11000398, essv11000609, essv11000525, essv11000848, essv11000396, essv11000905, essv11000892, essv11000765, essv11000857, essv11000830, essv11000557, essv11000654, essv11000488, essv11000412, essv11000528, essv11000702, essv11000474, essv11000397, essv11000477, essv11000781, essv11000741, essv11000468, essv11000550, essv11000631, essv11000827, essv11000687, essv11000620, essv11000695, essv11000868, essv11000670, essv11000649, essv11000596, essv11000546, essv11000484, essv11000481, essv11000577, essv11000803, essv11000878, essv11000806, essv11000685, essv11000714, essv11000476, essv11000421, essv11000853, essv11000583, essv11000891, essv11000718, essv11000535, essv11000811, essv11000438, essv11000829, essv11000632, essv11000630, essv11000617, essv11000820, essv11000683, essv11000771, essv11000651, essv11000871, essv11000883, essv11000540, essv11000511, essv11000721, essv11000604, essv11000527, essv11000696, essv11000406, essv11000698, essv11000734, essv11000722, essv11000682, essv11000409, essv11000815, essv11000647, essv11000828, essv11000425, essv11000521, essv11000766, essv11000873, essv11000773, essv11000405, essv11000761, essv11000758, essv11000707, essv11000783, essv11000569, essv11000847, essv11000838, essv11000517, essv11000831, essv11000767, essv11000461, essv11000754, essv11000810, essv11000780, essv11000747, essv11000898, essv11000792, essv11000571, essv11000434, essv11000845, essv11000479, essv11000776, essv11000856, essv11000821, essv11000660, essv11000627, essv11000580, essv11000538, essv11000742, essv11000881, essv11000727, essv11000431, essv11000472, essv11000860, essv11000417, essv11000731, essv11000603, essv11000890, essv11000728, essv11000500, essv11000399, essv11000541, essv11000708, essv11000888, essv11000653, essv11000593, essv11000674, essv11000480, essv11000454, essv11000720, essv11000447, essv11000655, essv11000559, essv11000401, essv11000692, essv11000804, essv11000800, essv11000874, essv11000591, essv11000628, essv11000471, essv11000736, essv11000585, essv11000475, essv11000442, essv11000440, essv11000884, essv11000677, essv11000616, essv11000659, essv11000598, essv11000407, essv11000666, essv11000652, essv11000592, essv11000712, essv11000566, essv11000875, essv11000816, essv11000801, essv11000404, essv11000614, essv11000882, essv11000556, essv11000893, essv11000504, essv11000774, essv11000561, essv11000910, essv11000867, essv11000502, essv11000594, essv11000410, essv11000532, essv11000542, essv11000499, essv11000805, essv11000690, essv11000663, essv11000522, essv11000897, essv11000749, essv11000493, essv11000515, essv11000444, essv11000582, essv11000763, essv11000680, essv11000486, essv11000658, essv11000855, essv11000750, essv11000756, essv11000634, essv11000743, essv11000514, essv11000449, essv11000735, essv11000709, essv11000863, essv11000724, essv11000859, essv11000812, essv11000637, essv11000664, essv11000886, essv11000489, essv11000912, essv11000688, essv11000889, essv11000691, essv11000415, essv11000602, essv11000437, essv11000467, essv11000465, essv11000458, essv11000854, essv11000808, essv11000726, essv11000730, essv11000464, essv11000729, essv11000642, essv11000739, essv11000526, essv11000453, essv11000787, essv11000433, essv11000636, essv11000717, essv11000669, essv11000439, essv11000795, essv11000807, essv11000533, essv11000595, essv11000469, essv11000914, essv11000852, essv11000478, essv11000744, essv11000567, essv11000430, essv11000791, essv11000738, essv11000543, essv11000710, essv11000510, essv11000626, essv11000570, essv11000870, essv11000607, essv11000553, essv11000562, essv11000850, essv11000466, essv11000817, essv11000414, essv11000661, essv11000544, essv11000872, essv11000822, essv11000762, essv11000786, essv11000832, essv11000638, essv11000578, essv11000793, essv11000426, essv11000646, essv11000520, essv11000836, essv11000586, essv11000841, essv11000713, essv11000778, essv11000725, essv11000678, essv11000662, essv11000865, essv11000463, essv11000436, essv11000764, essv11000576, essv11000512, essv11000693, essv11000844, essv11000656, essv11000581, essv11000558, essv11000523, essv11000446, essv11000665, essv11000668, essv11000507, essv11000650, essv11000748, essv11000531, essv11000621, essv11000823, essv11000419, essv11000524, essv11000703, essv11000689, essv11000508, essv11000491, essv11000675, essv11000835, essv11000420, essv11000785, essv11000629, essv11000579, essv11000563, essv11000782, essv11000516, essv11000818, essv11000789, essv11000462, essv11000737, essv11000715, essv11000894, essv11000445, essv11000895, essv11000572, essv11000622, essv11000759, essv11000492, essv11000529, essv11000635, essv11000901, essv11000448, essv11000549, essv11000697, essv11000866, essv11000450, essv11000755, essv11000686, essv11000422, essv11000487, essv11000610, essv11000704, essv11000584, essv11000613, essv11000506, essv11000769, essv11000733, essv11000435, essv11000485, essv11000849, essv11000551, essv11000460, essv11000826, essv11000427, essv11000813, essv11000825, essv11000819, essv11000752, essv11000537, essv11000842, essv11000560, essv11000858, essv11000839, essv11000700, essv11000513, essv11000851, essv11000909, essv11000633, essv11000400, essv11000907, essv11000705, essv11000483, essv11000402, essv11000473, essv11000645, essv11000657, essv11000554, essv11000676, essv11000611, essv11000432
SamplesHG01986, NA18502, NA20339, HG02496, NA19399, HG03517, HG03247, HG03241, HG03449, HG02836, HG02798, HG02323, HG03521, HG03455, HG02624, HG03193, HG02888, NA19920, HG03069, NA20359, HG02769, HG03603, NA19171, HG01325, NA19379, HG03385, NA19315, HG01167, HG02595, NA18916, HG02645, HG01083, HG03040, NA20291, HG00130, HG03520, HG02561, NA18868, HG03212, NA19238, NA19024, HG02642, HG01284, NA19172, HG02588, NA19036, NA20412, HG03380, NA19239, HG03073, NA19025, HG02879, HG02479, HG01565, HG03061, HG03907, HG03088, NA19175, HG02449, NA19663, NA20519, HG02878, HG03301, NA18879, NA20901, HG02445, HG03024, HG03451, HG01334, NA19452, NA18523, HG02332, HG02635, HG04118, NA19625, HG02675, HG01896, HG03743, HG02772, NA19440, HG02557, NA19256, NA18517, NA19712, NA19434, HG03539, HG02546, HG02308, NA19454, HG02721, HG03458, NA19331, NA18865, NA19428, HG03473, HG02464, HG02580, NA20281, HG01342, HG02771, NA19328, NA19117, NA19223, NA19351, HG03279, HG03351, HG02768, NA18873, HG02013, NA18876, HG03401, HG01914, HG02947, NA19129, HG03198, HG02643, NA19429, NA19431, HG03265, HG02760, HG02339, HG03559, NA19648, NA19700, HG01054, NA19794, NA19397, NA18924, NA19466, HG02973, HG02702, NA19704, NA18507, HG03057, HG01389, NA18877, HG03558, NA19092, HG03280, NA20346, HG03577, HG03172, NA19098, HG03086, HG03099, NA18489, HG03499, HG01064, HG02541, HG02325, HG02620, NA19916, HG00330, HG02549, HG00736, HG03246, HG03105, HG03479, NA19681, NA19038, NA19922, HG03209, HG02885, HG02471, HG02420, NA19159, HG03352, NA19026, NA19189, NA19209, HG03583, NA18908, HG02882, NA19451, HG03169, HG02819, HG01603, HG00149, HG03120, HG02570, NA19247, NA19707, HG02334, HG02582, HG02236, HG02511, NA19391, HG02076, HG02554, HG02450, HG02953, NA19788, HG02497, HG02976, HG03294, HG02555, HG03123, HG03563, HG01161, NA19118, NA18499, HG03397, HG03078, NA19031, HG01383, HG01241, HG02283, NA18853, NA20282, HG03391, NA19225, NA19756, HG03991, HG02586, HG03109, HG01990, HG01700, HG01363, NA19401, HG02613, HG03028, NA19108, HG03461, HG03367, HG02983, HG02837, HG02314, HG03433, NA19310, HG02814, HG01801, NA19376, NA19323, NA19143, HG03039, NA19248, HG03442, NA19438, HG03646, NA20582, HG02646, HG02938, NA19713, HG01085, NA12830, HG02676, HG03538, HG01883, NA18505, NA19146, HG01886, HG02808, HG02629, HG02343, NA19153, HG02574, HG02944, HG03484, HG03121, HG03378, HG02481, NA19909, HG00102, NA20508, HG03052, NA19204, NA18861, HG03300, NA20752, HG03115, HG02012, NA19350, HG01806, HG02804, NA20294, NA19355, NA20332, HG02536, NA18510, HG03478, HG03572, NA18519, HG02621, NA19319, HG03168, HG03452, HG02952, NA19307, HG03091, NA18923, HG02860, HG03342, HG03578, NA19457, HG02054, NA20287, NA19904, HG02816, NA19130, HG02981, NA20539, NA19923, HG02143, NA19041, NA11932, NA19372, NA19235, NA19207, HG02545, NA20355, NA20342, HG02623, NA20127, NA19027, HG02716, HG00349, HG03343, HG02442, HG02820, NA19908, NA19403, HG02345, HG01669, HG01882, NA19455, HG03457, HG01142, HG01077, NA18871, HG03081, HG02508, HG03027, HG01889, HG03472, NA19461, HG02429, HG02577, HG03388, NA18912, HG02309, HG02881, NA19099, HG03046, HG01474, HG02594, NA19390, NA19149, NA19147, NA20276, HG02010, NA19019, HG01551, HG02304, HG01396, HG02611, NA20362, NA19835, HG03259, HG02982, HG03469, HG02179, HG00237, HG02274, NA19324, NA20544, HG02558, NA18501, HG02694, HG02095, HG03977, HG03097, HG03066, NA19474, HG02107, NA19093, HG03063, HG03060, NA20289, NA19711, HG03077, NA19030, HG02855, NA19312, HG02805, HG03303, NA19346, NA19214, HG00553, HG03166, HG03514, HG03096, HG02890, HG03366, NA19222, HG02610, HG02583, HG03548, HG03163, NA19914, HG02433, HG02337, HG02318, HG01280, HG03607, NA18917, HG02891, HG00318, HG03130, NA18486, HG02870, NA19393, HG03100, HG03518, HG03297, HG03074, NA19374, NA19201, HG02811, HG03135, NA19448, HG02485, NA19198, HG03485, HG03370, HG00346, NA19138, HG02111, HG01242, HG02489, NA19383, HG03189, NA18874, HG03268, HG02573, NA19137, HG02461, HG01369, HG03195, NA19385, HG03696, HG02571, NA19901, HG02502, NA18864, HG03267, NA19456, NA19200, HG03270, HG01139, HG02977, HG02439, NA19210, HG01248, NA19437, HG01187, HG02233, NA18934, NA12003, NA19152, HG03547, HG03291, NA19913, HG02322, NA18915, HG02968, NA20767, HG02470, HG03124, HG02757, HG01049, HG03311, HG03085, HG01073, NA19449, HG03136, HG03476, NA19113, NA19320, NA19257, HG02585, HG01890, NA19095, HG02484, HG02813, HG02455, NA19206, HG02807, NA18909, HG02799, NA19473, HG01894, HG01915, NA19435, HG01958, NA19380, NA19144, NA19439, HG02839, HG01933, NA19467, HG03108, NA19475, HG03084, HG00371, NA20348, HG02974, HG02970, HG03049, HG02053, HG01254, HG02462, HG03410, NA19096, NA19213, HG03162, HG03072, NA18511, NA18522, HG01112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596068
Frequency
Sample Size2504
Observed Gain0
Observed Loss519
Observed Complex0
Frequencyn/a


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