A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602181



Internal ID6989215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129359672..129361784hg38UCSC Ensembl
Innerchr4:129359673..129361784hg38UCSC Ensembl
Outerchr4:129359672..129361785hg38UCSC Ensembl
chr4:130280827..130282939hg19UCSC Ensembl
Innerchr4:130280828..130282939hg19UCSC Ensembl
Outerchr4:130280827..130282940hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg382113
hg192113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11600632, essv11600733, essv11600698, essv11600699, essv11600757, essv11600692, essv11600566, essv11600744, essv11600788, essv11600753, essv11600556, essv11600783, essv11600609, essv11600569, essv11600774, essv11600777, essv11600637, essv11600534, essv11600834, essv11600818, essv11600833, essv11600675, essv11600769, essv11600669, essv11600764, essv11600623, essv11600612, essv11600768, essv11600820, essv11600589, essv11600836, essv11600803, essv11600787, essv11600772, essv11600701, essv11600739, essv11600742, essv11600590, essv11600627, essv11600622, essv11600746, essv11600638, essv11600526, essv11600562, essv11600661, essv11600755, essv11600607, essv11600606, essv11600732, essv11600665, essv11600584, essv11600577, essv11600817, essv11600528, essv11600819, essv11600800, essv11600546, essv11600672, essv11600568, essv11600802, essv11600626, essv11600587, essv11600795, essv11600673, essv11600832, essv11600704, essv11600796, essv11600678, essv11600779, essv11600653, essv11600634, essv11600756, essv11600778, essv11600598, essv11600747, essv11600726, essv11600694, essv11600540, essv11600748, essv11600798, essv11600545, essv11600829, essv11600716, essv11600572, essv11600548, essv11600552, essv11600615, essv11600735, essv11600709, essv11600737, essv11600550, essv11600695, essv11600664, essv11600635, essv11600714, essv11600580, essv11600559, essv11600551, essv11600707, essv11600680, essv11600655, essv11600724, essv11600579, essv11600593, essv11600599, essv11600574, essv11600683, essv11600560, essv11600805, essv11600745, essv11600727, essv11600685, essv11600601, essv11600754, essv11600697, essv11600743, essv11600541, essv11600547, essv11600696, essv11600686, essv11600679, essv11600636, essv11600542, essv11600605, essv11600571, essv11600790, essv11600793, essv11600667, essv11600594, essv11600658, essv11600586, essv11600710, essv11600827, essv11600666, essv11600750, essv11600761, essv11600794, essv11600641, essv11600654, essv11600582, essv11600620, essv11600608, essv11600708, essv11600689, essv11600561, essv11600734, essv11600806, essv11600567, essv11600690, essv11600815, essv11600585, essv11600730, essv11600671, essv11600573, essv11600718, essv11600770, essv11600810, essv11600643, essv11600529, essv11600826, essv11600758, essv11600657, essv11600813, essv11600711, essv11600535, essv11600663, essv11600648, essv11600602, essv11600729, essv11600725, essv11600538, essv11600773, essv11600717, essv11600628, essv11600668, essv11600660, essv11600674, essv11600646, essv11600595, essv11600823, essv11600583, essv11600809, essv11600702, essv11600766, essv11600760, essv11600633, essv11600816, essv11600752, essv11600575, essv11600570, essv11600624, essv11600712, essv11600771, essv11600642, essv11600531, essv11600715, essv11600797, essv11600811, essv11600824, essv11600649, essv11600740, essv11600644, essv11600596, essv11600705, essv11600563, essv11600808, essv11600530, essv11600723, essv11600639, essv11600625, essv11600731, essv11600721, essv11600662, essv11600821, essv11600543, essv11600786, essv11600741, essv11600630, essv11600807, essv11600804, essv11600736, essv11600700, essv11600782, essv11600801, essv11600645, essv11600549, essv11600527, essv11600614, essv11600765, essv11600706, essv11600597, essv11600618, essv11600681, essv11600713, essv11600565, essv11600785, essv11600600, essv11600557, essv11600610, essv11600536, essv11600592, essv11600555, essv11600652, essv11600533, essv11600611, essv11600659, essv11600677, essv11600591, essv11600581, essv11600828, essv11600676, essv11600640, essv11600558, essv11600799, essv11600621, essv11600830, essv11600728, essv11600684, essv11600578, essv11600776, essv11600784, essv11600619, essv11600693, essv11600759, essv11600720, essv11600629, essv11600576, essv11600767, essv11600749, essv11600670, essv11600537, essv11600835, essv11600647, essv11600544, essv11600603, essv11600554, essv11600687, essv11600650, essv11600812, essv11600651, essv11600617, essv11600564, essv11600792, essv11600539, essv11600604, essv11600688, essv11600791, essv11600656, essv11600781, essv11600780, essv11600532, essv11600682, essv11600631, essv11600763, essv11600822, essv11600814, essv11600789, essv11600775, essv11600613, essv11600691, essv11600553, essv11600825, essv11600762, essv11600738, essv11600703, essv11600588, essv11600719, essv11600831, essv11600751, essv11600722, essv11600616
SamplesNA19394, NA19701, NA20339, HG02944, HG02628, HG02481, NA18861, NA18508, HG03111, HG03517, HG03247, HG03241, HG03449, HG02419, HG02798, HG03115, HG02012, HG03521, HG03298, NA20298, HG03455, NA18878, NA19377, HG03193, HG02888, NA20356, HG03069, NA20359, NA18510, HG02769, HG03478, NA19107, HG03133, HG01350, HG02621, NA19315, HG02952, HG01167, HG03091, HG02595, NA18916, HG02645, HG02054, HG03224, HG03040, NA19384, NA20291, HG02562, NA19041, HG03520, HG02561, NA18868, HG03045, NA19024, NA19235, NA19207, NA19036, NA20412, HG02545, HG03073, HG02623, NA20127, HG02477, HG02879, HG02716, HG02442, NA19908, HG03132, HG03363, HG03511, HG03088, HG02678, HG01095, NA19184, HG02887, NA18871, HG03159, HG03027, HG02878, HG01889, HG01102, HG03472, NA19461, HG02445, NA18912, HG03446, HG02666, NA19452, HG02256, NA18523, HG02635, HG02896, NA19625, HG02568, HG01107, HG02675, HG02722, HG03064, NA19375, NA19440, HG02557, NA19390, NA19147, NA18517, HG03437, NA19712, HG03539, HG02010, NA19454, HG00734, HG02611, NA20362, NA19835, HG03259, HG02941, NA19428, HG03473, HG02464, HG02580, HG02317, NA20281, NA19360, HG02558, HG02771, HG01086, NA18501, HG01577, HG02971, HG03157, NA19223, HG03097, HG03066, NA19351, HG03313, NA19468, HG03279, NA19093, HG03060, NA20289, NA19102, HG02013, HG03077, HG03470, NA19030, NA19430, NA19129, NA19312, HG02851, HG02805, NA19463, NA19346, HG03265, HG03271, HG02760, HG02614, HG03096, HG01413, HG02890, NA19141, NA19222, NA19700, HG01054, HG02583, HG01303, NA19332, HG02702, HG01079, NA19704, NA18507, NA19020, NA18877, HG03558, HG03130, HG02870, HG03280, HG02476, HG03190, HG03139, HG03577, NA19190, NA19098, HG02895, HG03082, HG03464, NA19201, HG02810, HG03499, NA19448, NA19119, HG03485, NA19197, NA18498, HG02489, NA19038, HG03189, NA18874, HG02573, NA19137, NA20340, HG02885, NA19471, NA19317, NA19159, HG03352, HG02571, NA19901, NA19189, NA18520, NA18864, HG03058, HG03583, NA18908, HG02882, HG03048, HG02009, HG03054, NA19437, HG03160, NA19707, HG02582, HG02511, NA19236, NA19982, NA18915, HG03428, HG01989, HG02307, HG01119, NA20126, HG02968, HG02470, HG02757, HG03294, HG02555, HG01092, HG03311, HG03563, HG01414, NA19118, NA19449, HG03382, HG03136, HG03476, HG02817, NA18499, HG03397, HG03078, NA19113, NA19320, NA18853, HG03571, HG03391, NA19160, HG02586, HG03109, HG02484, HG03567, NA20296, HG02813, HG01363, NA19401, HG02455, NA19206, NA20801, HG02807, NA18909, NA19108, HG02799, HG02759, HG02501, HG02983, NA19435, HG02314, NA19439, NA19310, HG02839, NA19467, HG03557, NA19475, NA19143, HG03432, NA20348, NA19248, HG03442, NA19438, HG02970, HG01556, HG02646, HG02053, NA19713, NA12830, HG02462, HG03410, HG02679, NA19096, NA19213, HG02052, HG02051, HG03445, HG01377, HG02861, NA19146, HG03376, HG02465, HG03072, HG02284, HG01886, NA18522, HG02808, HG03129, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602181
Frequency
Sample Size2504
Observed Gain0
Observed Loss311
Observed Complex0
Frequencyn/a


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