Variant DetailsVariant: esv2667791 | Internal ID | 9933896 | | Landmark | | | Location Information | | | Cytoband | 2q24.3 | | Allele length | | Assembly | Allele length | | hg38 | 2052 | | hg19 | 2052 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5488451, essv6059630, essv5989744, essv6213800, essv5891775, essv5409887, essv6301052, essv6043746, essv6009746, essv5726019, essv5493548, essv5451715, essv6402557, essv6280012, essv6539693, essv6213559, essv5590856, essv5855929, essv5552127, essv5617147, essv6487544, essv5617834, essv5983026, essv6080779, essv6102268, essv6311896, essv5712510, essv5816388, essv5953469, essv5847597, essv5848884, essv5581781, essv6475152, essv5714606, essv5396686, essv6291380, essv5715151, essv6136613, essv5566727, essv6132618, essv5673188, essv5544966, essv5609339, essv6244866, essv6171214, essv5915160, essv5513000, essv6169332, essv6013547, essv6493425, essv5462212, essv5946153, essv6420282, essv6259073, essv6406087, essv6177322, essv5948376, essv5960351, essv6571666, essv6313513, essv6070280, essv5901820, essv6305125, essv5972976, essv6265087, essv5877081, essv6109677, essv6239064, essv6082832, essv6587490, essv6495777, essv6155679, essv5725062, essv6153774, essv5516354, essv6230065, essv6167339, essv6415498, essv6049149, essv6242494, essv6047729, essv6107341, essv6094508, essv5914059, essv6585039, essv5471903, essv6576627, essv5462191, essv6250269, essv5960066, essv6393068, essv6168718, essv5519968, essv6272250, essv6018534, essv5508367, essv6451509, essv5985321, essv6027910, essv6301086, essv5541894, essv6584609, essv6311080, essv5952791, essv6077546, essv6399237, essv6497493, essv5502522, essv6146088, essv5690860, essv6375339, essv6077322, essv6471287, essv6126636, essv5555815, essv6524391, essv6154868, essv5729737, essv6069367, essv6275070, essv5536040, essv6206600, essv5447839, essv5732267, essv6057528, essv5793637, essv5954437, essv5886085, essv6384927, essv6364608, essv6124307, essv5781401, essv6249776, essv6228083, essv6491099, essv5532175, essv6166839, essv5987443, essv5698868, essv6246052, essv5728014, essv5939664, essv5902371, essv5655700, essv5445938, essv5505742, essv6457937, essv5977220, essv5547176, essv5443786, essv5410442, essv6573898, essv5973525, essv5869926, essv5640890, essv5672512, essv6133282, essv6123292, essv5785740, essv5678646, essv5802412, essv5470612, essv6435254, essv6194178, essv6434778, essv6434526, essv6429091, essv6237829, essv5897805, essv5457234, essv5444493, essv6593734, essv6200635, essv5537938, essv6349817, essv5974597, essv5752197, essv5774597, essv5763384, essv5745868, essv5784792, essv5658975, essv6261325, essv6556830, essv5912315, essv5758212, essv5743332, essv6145161, essv6419891, essv6017858, essv5503486, essv6170413, essv6063044, essv5446662, essv5396922, essv6456462, essv6483663, essv6165969, essv5503671, essv6582323, essv5908005, essv5906465, essv6524411, essv5634996, essv6009133, essv6194235, essv6157692, essv6179552, essv6009044, essv6434718, essv6428960, essv6328264, essv6502976, essv6021774, essv5891609, essv6583483, essv6117923, essv6527261, essv6547360, essv6386107, essv5844248, essv5476130, essv5489139, essv5689139, essv6252895, essv5663950, essv6075788, essv5733080, essv5696093, essv5688269, essv5559645, essv5996283, essv5513929, essv5398915, essv6005623, essv5582151, essv5822609, essv6286773, essv5789079, essv5867552, essv5429653, essv5666741, essv5494769, essv6308989, essv5995767, essv5486845, essv6482636, essv5984767, essv5879390, essv6560909, essv6464466, essv6532242, essv5675201, essv6173980, essv5415600, essv6418066, essv6339871, essv5459430, essv6354808, essv5602287, essv5754582, essv6431417, essv6189286, essv6281707, essv5708250, essv6588020, essv5755457, essv5595167, essv6151817, essv6082216, essv5827625, essv5579231, essv6352267, essv5992999, essv5962661, essv5483637, essv6437823, essv6340538, essv6037208, essv6446452, essv5926506, essv6197907, essv5594051, essv5778850, essv6159015, essv5798430, essv6482673, essv6354289, essv5444124, essv6143415, essv6195197, essv5496996, essv5542521, essv6596438, essv5757804, essv5880637, essv6109458, essv5519691, essv6187942, essv6031380, essv6077602, essv5438233, essv5447160, essv6381205, essv5450694, essv6480312, essv6285156, essv5736357, essv5648442, essv5746883, essv5699187, essv5980998, essv6176958, essv5928148, essv6164239, essv5774606, essv5893480, essv5431543, essv6284955, essv5998284, essv6338647, essv5647763, essv6123820, essv5909420, essv6362847, essv6515710, essv5506617, essv5625807, essv6519620, essv6001921, essv6045696, essv5854615, essv5732093, essv5834088, essv6557895, essv5831941, essv6423684, essv5873864, essv6334100, essv5519073, essv5805812, essv5573174, essv6516910, essv5790853, essv6530160, essv6327144, essv5604357, essv6026643, essv5951263, essv5487441, essv6191996, essv5736001, essv6524654, essv6004093, essv6123283, essv5584618, essv5973960, essv6537595, essv6389194, essv6337770, essv6508911, essv6121647, essv6019940, essv6291901, essv6187187, essv5717763, essv6346733, essv5859297, essv5951568, essv5934702, essv5590796, essv6278056, essv5544515, essv5533827, essv5647984, essv5771280, essv5542882, essv6568858, essv5743926, essv6506068, essv6215608, essv5521361, essv6540577, essv6482830, essv5997870, essv5841176, essv6319511, essv5762309, essv6275869, essv5960656, essv6104481, essv6443649, essv6198050, essv6236269, essv5582272, essv5747627, essv6259337, essv5547656, essv5920379, essv5804054, essv5587928, essv6110829, essv6575802, essv5980037, essv6226436, essv6176094, essv6124133, essv5561064, essv6522680, essv5909927, essv5425901, essv6403786, essv6351234, essv6112991, essv5731048, essv6262627, essv5832335, essv6470850, essv6415706, essv6266618, essv5936884, essv6336101, essv6169228, essv6536872, essv6525997, essv5405193, essv5685108, essv5609539, essv6292453, essv5508684, essv5781692, essv6380466, essv5877727, essv6453592, essv6387697, essv5758172 | | Samples | NA19394, NA18502, HG00189, NA19701, HG00650, HG00542, HG00442, HG01173, NA19058, NA19703, HG01462, NA19909, NA12286, HG00671, NA19066, NA18861, HG00559, NA11920, HG00257, NA18999, HG00233, NA19350, NA12751, NA20294, NA18504, NA19377, NA18530, NA18959, HG00449, HG01461, HG00654, NA19443, HG01051, NA19920, NA18510, NA20806, NA19067, NA18602, HG00693, NA18988, NA18627, HG00337, NA19107, HG00663, NA19373, HG01350, NA18940, NA18519, HG00589, HG00272, NA19319, HG00122, NA19315, NA18597, NA20589, HG01167, HG01168, NA18567, NA18558, NA18547, NA18960, NA18618, NA18916, NA18574, NA19457, HG01365, HG00334, NA20287, NA19904, NA19384, HG00537, NA18949, HG00512, HG01069, NA19720, HG01080, NA18868, HG00325, NA11994, HG00705, HG00160, NA18990, HG01198, NA18557, HG01133, HG00326, NA20757, HG01550, NA20515, NA18539, NA19921, NA20753, NA12777, NA18951, NA18605, NA19908, HG00443, NA18538, HG01171, NA19070, NA19403, HG00557, HG00732, HG00657, NA20810, NA19717, NA19455, HG00556, HG00583, NA19081, NA18579, NA18871, NA18572, HG01149, NA18948, NA18534, NA18981, NA19064, NA19654, HG01102, HG00284, NA18573, NA19461, NA18626, HG00690, HG00404, HG00531, HG00479, HG00684, NA19453, NA18912, NA18532, HG01101, HG00140, NA18553, NA19059, NA18555, HG00152, NA19452, NA18963, HG00704, NA19682, NA18523, HG00463, NA18570, NA19625, NA18593, NA12546, HG01107, NA18541, NA18953, HG01148, NA19375, NA19003, HG00611, NA18632, NA19652, NA19440, NA18533, NA19390, HG00336, HG00265, NA19256, NA19147, HG00625, NA19434, NA18564, NA18628, NA20815, NA19072, HG00580, NA19444, NA19835, HG00473, NA19470, NA19324, NA19311, HG01137, NA19083, NA18943, NA19783, HG00662, HG00418, NA18610, HG01342, HG00620, NA18501, HG00614, HG00513, NA18631, HG00259, NA19468, NA19093, NA18636, NA18609, HG00310, NA19102, NA18873, NA19116, NA19430, NA19129, NA19312, HG00171, NA18968, NA18624, NA18623, NA18612, NA19429, NA19074, HG00553, HG00581, NA19431, NA19676, NA18620, HG00593, HG00626, HG00403, HG01060, NA19700, HG00592, NA20543, NA19055, HG00536, NA19397, HG00249, HG00361, NA18592, HG00524, NA19332, HG01079, NA18561, NA18507, HG01188, HG01374, NA18917, NA18603, NA12045, HG00640, HG00318, NA19092, NA18486, NA18545, NA19819, NA19393, NA18596, HG00566, NA18606, NA19190, NA19098, NA18526, HG01140, NA18967, NA19374, NA19068, NA19746, NA19396, NA19381, NA19076, NA19005, NA18944, NA18550, HG00501, NA19382, NA18489, NA19762, NA19728, NA19448, NA18595, HG01488, HG00702, HG00689, HG00448, HG00173, NA18982, NA18635, NA18942, NA11992, NA19771, NA19088, NA19054, NA19681, NA18964, HG00590, NA19404, HG01134, NA19651, HG01067, HG00683, HG01170, NA19917, NA20340, NA19371, NA18560, NA19075, NA18617, NA19385, NA18986, NA19087, NA19159, HG00182, NA19002, NA19901, NA19189, NA18520, NA19456, NA19445, NA18975, HG00178, NA18908, HG00530, HG00419, HG00264, HG00464, HG00260, NA18614, NA11831, HG00543, HG00188, NA18544, HG00560, NA19247, NA19210, HG00629, NA19657, NA19437, HG01360, HG00183, NA19082, HG00596, HG00328, NA12003, HG00428, NA19462, NA19347, HG00190, NA20809, HG00653, HG00577, NA18956, HG00701, NA19327, NA19982, HG00320, HG00584, HG00533, NA18637, HG00500, NA18910, NA18630, NA20344, HG00619, HG00708, HG00635, HG01390, NA18566, HG00273, NA20299, NA19449, NA20538, NA18856, HG00613, HG00525, NA18853, NA20282, NA19338, NA19257, HG00141, NA19160, NA18634, NA19436, NA18546, NA18608, NA19401, HG00476, NA20522, NA18542, HG01190, HG00285, NA19108, NA18961, NA18952, NA18543, NA18559, HG00565, NA19473, NA18950, NA19732, NA19435, HG00638, NA07051, NA19439, HG00319, NA19085, HG00125, NA20341, NA19759, NA19376, NA19398, NA19078, HG00672, HG00111, HG00578, HG00446, HG00312, NA19438, NA19472, HG00421, NA18987, NA12749, HG00656, NA19713, HG01055, HG00174, HG00186, HG00698, NA19726, NA19213, NA18972, NA18552, NA19661, NA18984, NA07056, HG01464, NA18505, HG01378, NA18488, HG01082, NA20322, NA18511, NA18549, HG01191, HG00180, HG00437, NA19153, NA18562, NA18965 | | Known Genes | SCN3A | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | High quality site | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2667791
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 436 | | Observed Complex | 0 | | Frequency | n/a |
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