A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640927



Internal ID6681012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60502493..60503916hg38UCSC Ensembl
Innerchr17:60502494..60503916hg38UCSC Ensembl
Outerchr17:60502493..60503917hg38UCSC Ensembl
chr17:58579854..58581277hg19UCSC Ensembl
Innerchr17:58579855..58581277hg19UCSC Ensembl
Outerchr17:58579854..58581278hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15715817, essv15715854, essv15715825, essv15715643, essv15715824, essv15715920, essv15715646, essv15715809, essv15715557, essv15715620, essv15715875, essv15715840, essv15715605, essv15715711, essv15715895, essv15715630, essv15715846, essv15715609, essv15715691, essv15715640, essv15715766, essv15715885, essv15715658, essv15715937, essv15715869, essv15715879, essv15715584, essv15715830, essv15715768, essv15715774, essv15715892, essv15715685, essv15715883, essv15715648, essv15715660, essv15715780, essv15715936, essv15715683, essv15715814, essv15715633, essv15715861, essv15715924, essv15715690, essv15715693, essv15715926, essv15715801, essv15715606, essv15715710, essv15715638, essv15715787, essv15715591, essv15715791, essv15715789, essv15715583, essv15715943, essv15715670, essv15715798, essv15715888, essv15715728, essv15715872, essv15715680, essv15715682, essv15715894, essv15715745, essv15715654, essv15715908, essv15715674, essv15715618, essv15715884, essv15715657, essv15715686, essv15715684, essv15715816, essv15715871, essv15715853, essv15715891, essv15715874, essv15715797, essv15715832, essv15715626, essv15715625, essv15715864, essv15715676, essv15715673, essv15715718, essv15715562, essv15715819, essv15715886, essv15715938, essv15715829, essv15715760, essv15715595, essv15715573, essv15715593, essv15715695, essv15715629, essv15715698, essv15715594, essv15715901, essv15715612, essv15715592, essv15715622, essv15715877, essv15715862, essv15715764, essv15715563, essv15715610, essv15715598, essv15715671, essv15715753, essv15715701, essv15715708, essv15715707, essv15715722, essv15715793, essv15715845, essv15715878, essv15715571, essv15715604, essv15715866, essv15715889, essv15715561, essv15715721, essv15715906, essv15715935, essv15715565, essv15715900, essv15715585, essv15715857, essv15715897, essv15715613, essv15715777, essv15715783, essv15715627, essv15715729, essv15715582, essv15715614, essv15715608, essv15715554, essv15715662, essv15715921, essv15715919, essv15715818, essv15715858, essv15715902, essv15715742, essv15715790, essv15715822, essv15715855, essv15715590, essv15715776, essv15715860, essv15715750, essv15715856, essv15715769, essv15715836, essv15715757, essv15715927, essv15715611, essv15715689, essv15715569, essv15715770, essv15715839, essv15715792, essv15715637, essv15715849, essv15715911, essv15715741, essv15715568, essv15715812, essv15715603, essv15715644, essv15715786, essv15715847, essv15715904, essv15715589, essv15715803, essv15715717, essv15715752, essv15715600, essv15715624, essv15715923, essv15715739, essv15715712, essv15715700, essv15715647, essv15715762, essv15715808, essv15715632, essv15715754, essv15715758, essv15715709, essv15715672, essv15715678, essv15715746, essv15715873, essv15715843, essv15715735, essv15715800, essv15715703, essv15715828, essv15715586, essv15715821, essv15715756, essv15715928, essv15715933, essv15715649, essv15715652, essv15715915, essv15715807, essv15715566, essv15715763, essv15715733, essv15715664, essv15715784, essv15715655, essv15715564, essv15715723, essv15715628, essv15715810, essv15715865, essv15715635, essv15715781, essv15715556, essv15715642, essv15715704, essv15715859, essv15715913, essv15715749, essv15715848, essv15715696, essv15715890, essv15715719, essv15715842, essv15715782, essv15715851, essv15715870, essv15715737, essv15715882, essv15715558, essv15715552, essv15715720, essv15715724, essv15715827, essv15715645, essv15715656, essv15715697, essv15715732, essv15715844, essv15715931, essv15715580, essv15715771, essv15715607, essv15715876, essv15715597, essv15715726, essv15715802, essv15715574, essv15715623, essv15715759, essv15715823, essv15715578, essv15715661, essv15715716, essv15715705, essv15715740, essv15715663, essv15715785, essv15715880, essv15715602, essv15715765, essv15715699, essv15715748, essv15715896, essv15715734, essv15715909, essv15715887, essv15715893, essv15715616, essv15715815, essv15715910, essv15715727, essv15715942, essv15715577, essv15715641, essv15715788, essv15715867, essv15715599, essv15715702, essv15715744, essv15715838, essv15715688, essv15715621, essv15715650, essv15715775, essv15715925, essv15715730, essv15715666, essv15715615, essv15715905, essv15715687, essv15715772, essv15715831, essv15715553, essv15715639, essv15715767, essv15715820, essv15715587, essv15715941, essv15715694, essv15715681, essv15715667, essv15715713, essv15715929, essv15715795, essv15715922, essv15715914, essv15715555, essv15715747, essv15715837, essv15715675, essv15715799, essv15715596, essv15715755, essv15715572, essv15715560, essv15715692, essv15715939, essv15715634, essv15715779, essv15715576, essv15715773, essv15715665, essv15715907, essv15715930, essv15715588, essv15715863, essv15715934, essv15715841, essv15715932, essv15715575, essv15715677, essv15715668, essv15715567, essv15715761, essv15715833, essv15715898, essv15715653, essv15715679, essv15715651, essv15715669, essv15715778, essv15715715, essv15715811, essv15715834, essv15715570, essv15715852, essv15715794, essv15715579, essv15715736, essv15715912, essv15715916, essv15715813, essv15715617, essv15715743, essv15715581, essv15715804, essv15715903, essv15715881, essv15715940, essv15715796, essv15715631, essv15715725, essv15715601, essv15715917, essv15715826, essv15715559, essv15715868, essv15715636, essv15715706, essv15715751, essv15715835, essv15715619, essv15715805, essv15715918, essv15715899, essv15715806, essv15715731, essv15715714, essv15715850, essv15715659, essv15715738
SamplesHG02470, NA19146, HG02808, NA19207, HG03135, NA18870, NA19312, HG03160, HG03121, NA19030, HG03120, HG03354, HG03567, NA19712, HG02675, HG03279, NA19026, NA19904, HG03064, HG03351, NA18871, NA19819, NA19437, HG03478, HG03563, NA19209, NA18501, NA19093, HG02334, HG03129, HG02896, HG03086, HG02419, NA19435, HG02450, NA19319, HG03189, HG01325, HG03133, NA19334, HG03469, HG02722, HG02946, HG03571, HG01915, HG02884, NA19449, HG02010, NA19920, HG02508, HG03111, HG03298, NA18489, HG03432, HG03458, NA19144, HG02471, HG03099, HG02322, NA19257, NA19701, HG03268, HG03378, HG03109, NA18505, HG03039, HG02805, HG03049, NA18868, NA20340, HG02308, HG02870, NA20320, HG02585, NA20412, HG03558, HG03162, HG01550, HG02588, NA19463, HG03088, HG03461, NA19239, NA19314, NA19984, HG03193, HG03575, HG01375, HG03484, NA19390, HG02646, NA19309, NA19917, NA19197, NA19443, HG02554, NA19471, NA19107, HG03442, HG03439, NA19096, NA20127, HG02643, NA19429, NA19908, HG03052, HG03520, HG03130, HG02143, HG01879, HG01161, NA18916, NA19457, NA19700, HG03114, HG01986, NA19042, NA19316, HG02757, HG02941, NA19213, HG01242, NA19247, HG03169, NA19377, NA19395, NA19153, HG02442, HG02325, HG03190, NA19172, HG02537, HG02054, HG03040, HG03391, NA19374, HG03209, NA19375, NA19393, HG01989, HG02541, NA20348, HG03455, NA18498, NA18923, HG00255, NA18486, HG01271, HG01914, HG02461, NA18522, HG03511, HG02337, HG02804, NA18502, NA19119, NA19713, HG02573, HG02501, HG02558, HG03097, HG03168, HG03514, HG02971, NA18504, NA19175, NA19704, HG02111, HG03096, HG03366, HG03518, NA19347, HG02771, NA18878, NA19332, HG03157, HG02545, HG02571, NA19131, HG03291, HG02052, HG02479, HG03577, NA19307, NA19462, NA20355, HG02339, HG02582, HG02881, HG02570, HG03352, HG03385, NA19235, HG01566, HG02484, HG02947, HG03224, HG03363, HG02281, HG03446, NA19921, NA19038, NA19376, HG03303, NA18909, NA20357, HG02923, NA19391, NA19723, HG03499, HG02645, NA18915, NA20276, NA18867, NA19394, NA19403, HG03045, HG02629, NA19116, HG03267, HG03556, NA20289, NA20298, NA20318, NA19434, HG02144, HG03198, NA19818, HG02481, NA19099, HG01390, HG02561, NA18879, NA19475, HG03123, HG03476, NA20317, HG01464, HG02489, HG02465, HG02589, HG02837, NA19041, NA19225, NA19327, HG02891, HG03074, NA18917, HG01886, HG02678, NA19160, HG01947, HG03258, NA18499, NA18924, NA20359, HG03077, NA19198, HG01108, NA19118, HG01119, HG03060, NA19130, HG02485, HG03557, HG01985, HG03271, HG03372, HG03388, NA18853, NA19204, HG03117, NA19113, HG01462, HG02555, HG03515, NA19473, HG02051, HG02574, HG03517, NA19185, NA19448, NA19092, NA19468, HG01890, NA19385, HG02855, HG02095, NA19456, HG03460, NA18519, NA20339, HG02769, HG01067, HG03095, NA19439, HG02839, HG03082, HG02580, HG02666, HG03370, HG02890, NA19913, HG02427, HG02477, NA19445, NA19625, NA18861, HG02970, NA19321, HG00743, HG01052, HG01075, NA18933, NA18874, HG03112, HG03437, HG02284, HG02983, NA19310, HG03055, HG03066, HG03304, HG02759, HG03196, NA19023, HG02318, HG03295, NA18511, NA20299, HG02006, NA20294, HG03313, HG02979, NA19430, HG02943, NA19317, NA18877, HG01956, HG03212, HG02885, HG02887, HG03124, NA19338, NA20342, HG02944, HG01049, HG01286, HG03048, NA19461, HG01680, HG03294, NA19017, HG02760, HG03548, HG03538, HG01990, HG02323, HG02976, HG03572, NA19308, NA19467, NA19438, HG01435, HG03376, NA19117, HG01311, HG02455, NA19914, NA19428, NA19383, HG03470, NA18934, HG03127, HG02634, NA19323, HG03300, HG02009, HG03202, HG02577, HG03436, HG03241, HG01396, HG02763, HG02851, HG03024, HG03100, NA19256, NA19835, HG00637, HG02595, HG03166
Known GenesAPPBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640927
Frequency
Sample Size2504
Observed Gain0
Observed Loss392
Observed Complex0
Frequencyn/a


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