A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635731



Internal ID7022529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20393689..20420544hg38UCSC Ensembl
chr15:20598942..20625797hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg3826856
hg1926856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv430e214
Supporting Variantsessv15141531, essv15141820, essv15141659, essv15141814, essv15141812, essv15141705, essv15141801, essv15141549, essv15141773, essv15141559, essv15141668, essv15141575, essv15141866, essv15141568, essv15141679, essv15141639, essv15141520, essv15141504, essv15141861, essv15141782, essv15141867, essv15141786, essv15141547, essv15141722, essv15141740, essv15141696, essv15141651, essv15141599, essv15141803, essv15141823, essv15141505, essv15141794, essv15141876, essv15141597, essv15141508, essv15141560, essv15141603, essv15141581, essv15141788, essv15141769, essv15141854, essv15141732, essv15141674, essv15141873, essv15141822, essv15141537, essv15141676, essv15141655, essv15141774, essv15141827, essv15141792, essv15141562, essv15141783, essv15141751, essv15141530, essv15141500, essv15141848, essv15141756, essv15141850, essv15141777, essv15141853, essv15141661, essv15141612, essv15141627, essv15141829, essv15141666, essv15141571, essv15141780, essv15141519, essv15141712, essv15141557, essv15141858, essv15141582, essv15141667, essv15141635, essv15141538, essv15141624, essv15141851, essv15141619, essv15141611, essv15141586, essv15141652, essv15141702, essv15141762, essv15141750, essv15141681, essv15141869, essv15141770, essv15141765, essv15141761, essv15141875, essv15141644, essv15141708, essv15141691, essv15141721, essv15141510, essv15141862, essv15141600, essv15141512, essv15141592, essv15141727, essv15141669, essv15141591, essv15141798, essv15141881, essv15141648, essv15141565, essv15141748, essv15141789, essv15141816, essv15141795, essv15141535, essv15141521, essv15141760, essv15141672, essv15141831, essv15141569, essv15141880, essv15141711, essv15141878, essv15141842, essv15141742, essv15141573, essv15141640, essv15141855, essv15141810, essv15141636, essv15141617, essv15141838, essv15141753, essv15141514, essv15141835, essv15141767, essv15141870, essv15141839, essv15141826, essv15141830, essv15141583, essv15141643, essv15141572, essv15141856, essv15141527, essv15141660, essv15141852, essv15141763, essv15141845, essv15141516, essv15141545, essv15141884, essv15141649, essv15141620, essv15141650, essv15141700, essv15141497, essv15141821, essv15141768, essv15141793, essv15141735, essv15141734, essv15141503, essv15141846, essv15141577, essv15141860, essv15141522, essv15141507, essv15141818, essv15141720, essv15141804, essv15141755, essv15141665, essv15141654, essv15141833, essv15141552, essv15141540, essv15141824, essv15141776, essv15141683, essv15141528, essv15141645, essv15141723, essv15141513, essv15141745, essv15141585, essv15141764, essv15141752, essv15141759, essv15141680, essv15141517, essv15141832, essv15141687, essv15141787, essv15141749, essv15141579, essv15141883, essv15141802, essv15141631, essv15141689, essv15141576, essv15141746, essv15141653, essv15141790, essv15141758, essv15141730, essv15141726, essv15141633, essv15141771, essv15141747, essv15141642, essv15141542, essv15141703, essv15141879, essv15141847, essv15141523, essv15141729, essv15141710, essv15141754, essv15141743, essv15141699, essv15141609, essv15141548, essv15141692, essv15141677, essv15141578, essv15141809, essv15141685, essv15141828, essv15141825, essv15141779, essv15141716, essv15141805, essv15141682, essv15141534, essv15141836, essv15141698, essv15141601, essv15141796, essv15141717, essv15141664, essv15141604, essv15141784, essv15141728, essv15141614, essv15141725, essv15141539, essv15141529, essv15141590, essv15141551, essv15141509, essv15141499, essv15141637, essv15141625, essv15141864, essv15141701, essv15141739, essv15141800, essv15141733, essv15141554, essv15141566, essv15141593, essv15141626, essv15141781, essv15141584, essv15141844, essv15141533, essv15141791, essv15141613, essv15141673, essv15141607, essv15141558, essv15141808, essv15141719, essv15141872, essv15141610, essv15141498, essv15141525, essv15141506, essv15141595, essv15141587, essv15141843, essv15141541, essv15141686, essv15141618, essv15141518, essv15141634, essv15141778, essv15141849, essv15141602, essv15141704, essv15141713, essv15141871, essv15141806, essv15141718, essv15141834, essv15141741, essv15141675, essv15141501, essv15141819, essv15141550, essv15141670, essv15141737, essv15141663, essv15141536, essv15141874, essv15141731, essv15141678, essv15141817, essv15141865, essv15141695, essv15141598, essv15141555, essv15141859, essv15141564, essv15141543, essv15141606, essv15141515, essv15141724, essv15141709, essv15141837, essv15141877, essv15141629, essv15141526, essv15141736, essv15141588, essv15141688, essv15141671, essv15141738, essv15141605, essv15141567, essv15141690, essv15141841, essv15141811, essv15141594, essv15141589, essv15141580, essv15141797, essv15141693, essv15141563, essv15141868, essv15141863, essv15141715, essv15141714, essv15141707, essv15141815, essv15141766, essv15141697, essv15141641, essv15141511, essv15141775, essv15141561, essv15141857, essv15141621, essv15141544, essv15141662, essv15141694, essv15141623, essv15141684, essv15141657, essv15141813, essv15141647, essv15141616, essv15141807, essv15141630, essv15141524, essv15141706, essv15141799, essv15141570, essv15141502, essv15141646, essv15141622, essv15141632, essv15141615, essv15141608, essv15141882, essv15141772, essv15141757, essv15141596, essv15141532, essv15141546, essv15141656, essv15141553, essv15141840, essv15141628, essv15141638, essv15141785, essv15141658, essv15141556, essv15141574, essv15141744
SamplesHG03593, HG01173, NA19703, HG03228, HG00142, NA20766, NA19664, NA19399, HG03687, NA20514, NA20878, NA11920, HG00315, HG00151, NA20298, HG03455, HG01802, HG03229, HG02040, HG00449, HG02589, HG02536, HG01704, HG03069, HG00261, NA19067, HG04156, HG01522, NA20894, HG03009, HG00337, HG00663, NA20814, HG03837, HG03133, HG03770, HG03385, HG03943, HG03754, NA20798, HG01351, NA19678, HG02156, NA19307, HG03091, HG01168, NA18923, HG02840, HG02521, HG03673, HG03736, HG03604, NA18916, HG04182, NA07347, NA12762, HG03978, HG03224, HG00158, HG02131, HG02562, HG00139, NA19041, HG00335, NA20812, HG02736, HG00232, HG03045, HG04020, HG02190, HG03380, HG00406, HG00118, NA18990, HG02427, HG01048, HG01626, NA20755, HG02134, HG01565, HG01164, HG01124, HG02047, HG00137, NA12777, HG00154, NA20904, NA20892, HG01867, HG03685, HG03511, HG02070, HG03907, NA12878, NA20521, HG01095, HG04195, HG00132, HG03457, HG00556, HG03491, HG01845, HG01768, HG01142, HG03771, HG01498, HG00263, HG01941, HG01077, HG02165, HG02014, HG01323, NA18948, HG01675, NA18537, NA19654, HG00651, HG00250, NA21086, HG00479, NA12829, NA11893, NA11840, HG04017, HG02881, NA19752, HG03024, NA19099, HG04063, HG03969, HG01680, HG01936, HG04176, HG02219, HG00864, HG02568, HG02127, HG01625, HG03934, NA19375, HG00254, NA19390, HG04227, HG00336, NA20276, NA19434, HG02010, NA20815, HG04186, HG03949, HG02355, HG03695, HG03692, HG01685, HG00734, HG03117, HG01396, NA18865, NA19679, HG02274, HG01798, HG02317, NA12763, HG02137, HG01489, HG03779, HG04080, NA20906, NA20897, HG00614, HG01577, HG02373, HG00381, HG00259, HG03977, NA20849, HG03849, NA21102, HG04014, HG02235, HG01799, NA21093, NA18609, NA19102, HG01631, NA19770, HG03925, NA19711, HG02348, HG00728, HG02774, NA20503, NA19430, HG01920, HG01111, HG01125, HG02805, NA20585, NA18577, NA11832, HG04212, HG03773, HG01521, HG01356, NA19794, HG02583, NA18592, NA20274, HG04194, HG04202, HG03738, HG01970, NA18877, HG03558, HG00699, NA19819, HG03190, HG00364, HG04018, HG01944, NA12058, HG03667, NA20346, HG00879, HG02895, NA12155, HG01140, HG01250, HG04100, NA18550, HG01682, NA18595, HG02491, HG02087, NA19723, HG03873, HG02687, NA19916, HG00330, NA11992, NA18498, NA20513, NA19681, NA20541, NA19038, HG02281, HG01893, NA12282, HG03803, NA12005, HG04214, HG01455, NA19383, HG02395, HG02512, HG02490, NA20819, HG01170, HG01757, HG01495, NA18560, HG03746, HG03195, HG03696, HG03624, HG03777, NA20869, HG02104, HG02073, HG00637, NA19456, NA21114, NA18640, HG04029, HG02715, HG01603, HG01524, HG00260, NA11831, HG01784, HG01139, HG01136, NA19210, HG01360, HG01187, NA19707, HG03007, HG01384, HG00328, HG01104, NA12003, HG02697, HG02582, HG01344, HG00701, HG02511, NA18991, NA19913, HG03636, NA18915, HG03428, HG01810, NA19788, NA20506, HG04019, NA20767, HG04180, NA20770, HG02976, HG01049, NA21116, HG02789, HG02555, HG02364, HG01615, HG01094, HG01311, HG01512, HG03660, HG02817, NA20538, NA18856, HG03625, NA20282, NA19160, HG00445, HG01530, NA11881, NA19834, NA19108, HG03461, NA12775, NA19749, NA19732, HG00136, HG02923, HG02837, HG01977, HG01623, HG03433, HG03127, HG01205, NA18629, HG02839, HG01933, NA19786, HG01108, HG03557, NA19323, HG00111, HG00371, HG01432, NA19248, NA18971, HG01491, HG03442, NA21088, HG03896, HG01556, NA19060, HG02699, HG02938, HG01783, HG03684, HG03410, HG02679, HG00698, HG00234, NA19726, HG01105, NA20886, NA19661, HG02861, HG03882, HG01378, HG01566, HG02284, HG01886, HG01672, NA18522, NA21104, HG01097, HG02006, HG01923, HG01061, NA18562, NA12776, HG01926
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635731
Frequency
Sample Size2504
Observed Gain388
Observed Loss0
Observed Complex0
Frequencyn/a


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