A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614285



Internal ID7001180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99863718..99865907hg38UCSC Ensembl
Innerchr7:99863724..99865901hg38UCSC Ensembl
Outerchr7:99863712..99865913hg38UCSC Ensembl
chr7:99461341..99463530hg19UCSC Ensembl
Innerchr7:99461347..99463524hg19UCSC Ensembl
Outerchr7:99461335..99463536hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382190
hg192190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12908754, essv12908669, essv12908592, essv12908588, essv12908568, essv12908619, essv12908761, essv12908690, essv12908862, essv12908629, essv12908695, essv12908722, essv12908871, essv12908769, essv12908672, essv12908820, essv12908800, essv12908682, essv12908792, essv12908752, essv12908608, essv12908610, essv12908857, essv12908759, essv12908681, essv12908878, essv12908838, essv12908813, essv12908804, essv12908597, essv12908756, essv12908697, essv12908865, essv12908745, essv12908709, essv12908706, essv12908691, essv12908593, essv12908613, essv12908581, essv12908671, essv12908573, essv12908853, essv12908781, essv12908655, essv12908849, essv12908762, essv12908611, essv12908658, essv12908735, essv12908741, essv12908600, essv12908602, essv12908637, essv12908599, essv12908591, essv12908748, essv12908651, essv12908723, essv12908644, essv12908705, essv12908886, essv12908724, essv12908686, essv12908770, essv12908845, essv12908618, essv12908609, essv12908890, essv12908620, essv12908750, essv12908872, essv12908680, essv12908732, essv12908668, essv12908744, essv12908665, essv12908675, essv12908606, essv12908755, essv12908689, essv12908688, essv12908715, essv12908580, essv12908569, essv12908733, essv12908783, essv12908713, essv12908879, essv12908727, essv12908650, essv12908771, essv12908802, essv12908790, essv12908698, essv12908666, essv12908563, essv12908640, essv12908829, essv12908708, essv12908889, essv12908801, essv12908881, essv12908793, essv12908632, essv12908584, essv12908699, essv12908578, essv12908888, essv12908811, essv12908703, essv12908670, essv12908579, essv12908846, essv12908679, essv12908696, essv12908880, essv12908677, essv12908614, essv12908749, essv12908674, essv12908630, essv12908595, essv12908855, essv12908799, essv12908673, essv12908737, essv12908587, essv12908817, essv12908780, essv12908850, essv12908648, essv12908852, essv12908796, essv12908662, essv12908707, essv12908824, essv12908729, essv12908874, essv12908789, essv12908634, essv12908734, essv12908844, essv12908736, essv12908739, essv12908837, essv12908716, essv12908583, essv12908626, essv12908787, essv12908763, essv12908711, essv12908585, essv12908864, essv12908719, essv12908854, essv12908815, essv12908816, essv12908822, essv12908784, essv12908720, essv12908751, essv12908738, essv12908628, essv12908757, essv12908660, essv12908645, essv12908875, essv12908830, essv12908678, essv12908832, essv12908590, essv12908812, essv12908772, essv12908577, essv12908657, essv12908635, essv12908868, essv12908842, essv12908643, essv12908798, essv12908826, essv12908840, essv12908631, essv12908835, essv12908605, essv12908586, essv12908765, essv12908883, essv12908861, essv12908747, essv12908843, essv12908808, essv12908742, essv12908774, essv12908859, essv12908730, essv12908858, essv12908779, essv12908791, essv12908639, essv12908785, essv12908773, essv12908777, essv12908726, essv12908692, essv12908782, essv12908575, essv12908805, essv12908661, essv12908887, essv12908731, essv12908576, essv12908565, essv12908636, essv12908869, essv12908758, essv12908740, essv12908717, essv12908704, essv12908839, essv12908825, essv12908768, essv12908694, essv12908847, essv12908746, essv12908653, essv12908743, essv12908687, essv12908623, essv12908601, essv12908848, essv12908788, essv12908876, essv12908764, essv12908851, essv12908654, essv12908627, essv12908652, essv12908818, essv12908760, essv12908596, essv12908616, essv12908836, essv12908564, essv12908693, essv12908562, essv12908725, essv12908714, essv12908604, essv12908767, essv12908567, essv12908572, essv12908814, essv12908753, essv12908659, essv12908809, essv12908821, essv12908676, essv12908646, essv12908775, essv12908828, essv12908566, essv12908873, essv12908718, essv12908891, essv12908615, essv12908877, essv12908870, essv12908633, essv12908827, essv12908641, essv12908766, essv12908884, essv12908856, essv12908684, essv12908797, essv12908594, essv12908570, essv12908622, essv12908882, essv12908806, essv12908776, essv12908786, essv12908807, essv12908710, essv12908885, essv12908624, essv12908582, essv12908728, essv12908642, essv12908863, essv12908612, essv12908598, essv12908841, essv12908794, essv12908810, essv12908867, essv12908589, essv12908701, essv12908607, essv12908831, essv12908617, essv12908795, essv12908621, essv12908823, essv12908656, essv12908860, essv12908700, essv12908603, essv12908663, essv12908803, essv12908667, essv12908702, essv12908625, essv12908712, essv12908819, essv12908721, essv12908647, essv12908833, essv12908834, essv12908778, essv12908638, essv12908571, essv12908866, essv12908664, essv12908561, essv12908685, essv12908574, essv12908683, essv12908649
SamplesHG01985, NA18502, HG02574, NA19701, NA20339, HG02944, HG03484, NA19703, HG03378, NA18861, NA19399, HG03247, HG03717, HG03241, HG03449, HG02419, HG02836, HG03115, HG02012, HG02804, NA19355, HG03295, NA19377, HG03193, HG02589, NA20356, NA19920, HG03069, HG02769, HG03478, HG03133, HG00641, NA19171, HG03436, NA19379, NA18519, NA19319, HG03385, HG03722, HG03452, HG02952, HG03091, HG02756, HG02860, NA18916, HG02645, NA19457, HG02054, NA20291, NA19130, HG02143, HG03520, HG02561, HG01080, NA18868, NA19238, NA19024, NA19207, NA19172, HG03814, HG03380, HG02545, HG01133, NA20355, HG02623, NA20127, NA18867, HG02164, NA19921, NA19027, HG02479, HG02716, HG03343, HG02943, HG02442, HG02820, HG03132, HG03061, NA19403, HG02678, HG00732, NA19184, HG02449, HG01882, HG03159, HG03027, HG02878, HG01889, NA18907, HG01047, HG03472, NA19461, HG02429, NA18879, HG03388, HG02309, HG03024, NA19099, HG03451, HG02256, NA18523, HG02635, HG01988, NA18858, HG01956, HG01107, HG02722, HG03743, HG03064, NA19390, NA19256, NA19149, NA18517, NA19712, HG02010, HG02546, NA19454, HG03117, NA19331, HG02611, NA18865, NA19835, HG03259, HG02941, HG02274, HG02464, HG02317, NA20281, NA19360, HG02771, NA19328, NA19117, NA18501, HG02971, HG03112, HG02095, HG01912, NA19223, NA19351, NA19468, NA19093, NA20289, NA19102, HG02013, NA18876, NA19711, HG03077, HG03401, HG01914, HG02947, HG02763, NA19430, NA19312, HG02778, NA19463, HG03303, HG03439, HG02760, HG04212, HG03559, HG02890, NA19222, NA19700, HG03548, HG03821, NA19332, NA20274, NA19704, HG02852, NA18877, HG02891, NA19092, NA18486, NA19393, HG03297, HG03139, HG03577, HG03172, NA19098, NA18870, HG02895, NA19374, HG04100, HG03464, HG03099, NA18489, HG03499, NA19448, HG01488, HG02325, HG02620, HG03370, HG02549, HG03105, NA19023, HG03479, HG02922, HG01242, HG02281, HG03209, HG02703, HG03189, HG02315, HG02573, NA19471, HG02471, HG01176, HG02420, NA19901, NA19189, NA18520, HG03225, HG02946, HG03267, NA19209, HG03058, HG03055, HG02715, HG03369, NA19451, NA19200, HG03270, HG03048, HG02819, HG03120, HG02977, NA19247, NA19210, NA19437, HG01187, NA18934, HG01104, NA19391, NA19327, NA19913, HG02108, NA19236, HG02322, NA18516, NA19982, HG02953, HG02307, NA20126, HG01880, HG03124, HG02757, HG02555, HG03311, HG03085, HG03476, NA18499, HG03078, NA18856, HG01241, NA19113, HG02283, NA19320, NA18853, HG03571, NA20282, HG03391, HG02585, NA19225, HG01403, NA19160, NA19095, HG01990, HG02813, HG02255, HG01363, HG03028, HG02282, NA18909, NA19321, NA19108, HG03461, HG02799, HG02759, HG03367, HG02501, HG01894, HG01915, NA19037, NA20351, NA19144, HG03433, HG03127, HG01951, NA19310, NA19467, HG03557, HG02814, NA19475, NA19143, HG03432, HG01606, HG03039, NA19248, NA21088, NA19438, HG02970, HG03049, HG02654, NA20334, HG02938, HG02053, HG01055, HG02462, HG00131, NA19096, NA19213, HG03538, HG02052, HG02051, HG01883, HG03162, NA18488, HG03376, HG02465, HG03072, HG02284, NA18522, HG02808, HG02629, HG03118, HG00554, HG03129, HG02006, HG03686, NA19153, HG03196
Known GenesCYP3A43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614285
Frequency
Sample Size2504
Observed Gain0
Observed Loss331
Observed Complex0
Frequencyn/a


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