A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667791



Internal ID9587210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160234hg38UCSC Ensembl
chr2:166014693..166016744hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382052
hg192052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5909420, essv5973525, essv6239064, essv5537938, essv5952791, essv6157692, essv6252895, essv5459430, essv5778850, essv6043746, essv6121647, essv5847597, essv5675201, essv6540577, essv5736357, essv6109458, essv5444124, essv5488451, essv5476130, essv6497493, essv5508684, essv6080779, essv5732267, essv5996283, essv5901820, essv6021774, essv5774597, essv6301052, essv5447839, essv5960066, essv5409887, essv5762309, essv6124133, essv5429653, essv6278056, essv6431417, essv5443786, essv6049149, essv5536040, essv5516354, essv6568858, essv6250269, essv5398915, essv6493425, essv5582272, essv6349817, essv6420282, essv5493548, essv6275869, essv6107341, essv6364608, essv6381205, essv5483637, essv5425901, essv6582323, essv6237829, essv6249776, essv5559645, essv6530160, essv6146088, essv6487544, essv5450694, essv6132618, essv5508367, essv6126636, essv5617834, essv5752197, essv5446662, essv5519968, essv5747627, essv5396686, essv5743332, essv6213559, essv5980037, essv5822609, essv6585039, essv6169332, essv5946153, essv5714606, essv5784792, essv5445938, essv5544515, essv5471903, essv5912315, essv5816388, essv5487441, essv6389194, essv5663950, essv5781401, essv5717763, essv6387697, essv5609339, essv5873864, essv6386107, essv5997870, essv6195197, essv6536872, essv5544966, essv5732093, essv6339871, essv5521361, essv6226436, essv6443649, essv5757804, essv6102268, essv6418066, essv6123820, essv5696093, essv5647763, essv5678646, essv5745868, essv5634996, essv6070280, essv5985321, essv6313513, essv6352267, essv6527261, essv5594051, essv6123283, essv6502976, essv5920379, essv6005623, essv5503671, essv5579231, essv5547176, essv5998284, essv5869926, essv6557895, essv6117923, essv6575802, essv5987443, essv5755457, essv6584609, essv6059630, essv6215608, essv6403786, essv5533827, essv5582151, essv6009746, essv6423684, essv5438233, essv6275070, essv5754582, essv6082216, essv6133282, essv6491099, essv5855929, essv6524654, essv5604357, essv5519073, essv6200635, essv5789079, essv6456462, essv6560909, essv6197907, essv6159015, essv5867552, essv6167339, essv5505742, essv5960656, essv5832335, essv6109677, essv5951568, essv5595167, essv6547360, essv6027910, essv5396922, essv5647984, essv6508911, essv6191996, essv6069367, essv5552127, essv5708250, essv5763384, essv5617147, essv6077546, essv6272250, essv5728014, essv5939664, essv6177322, essv6143415, essv6524411, essv6587490, essv6338647, essv6483663, essv6573898, essv5733080, essv6519620, essv6556830, essv5712510, essv5729737, essv5960351, essv5581781, essv5893480, essv6515710, essv6537595, essv5673188, essv6031380, essv6583483, essv6082832, essv6393068, essv5506617, essv5834088, essv5948376, essv6429091, essv5640890, essv5725062, essv6346733, essv6179552, essv6009133, essv6026643, essv6281707, essv5513929, essv6013547, essv6375339, essv6228083, essv5451715, essv5914059, essv5447160, essv5609539, essv6176958, essv6104481, essv6457937, essv5891609, essv6571666, essv6334100, essv5542882, essv6471287, essv5685108, essv6145161, essv5909927, essv5513000, essv6136613, essv5758172, essv5781692, essv6524391, essv6168718, essv6246052, essv5972976, essv6265087, essv6482636, essv5908005, essv5584618, essv5726019, essv6001921, essv6063044, essv5561064, essv5602287, essv6017858, essv5771280, essv6362847, essv6384927, essv6451509, essv6019940, essv6428960, essv6434778, essv5785740, essv5973960, essv5457234, essv5590796, essv5648442, essv5798430, essv6057528, essv6284955, essv6311080, essv5804054, essv6123292, essv5715151, essv6244866, essv6291380, essv6301086, essv5587928, essv5793637, essv6075788, essv5974597, essv6280012, essv5915160, essv6154868, essv5980998, essv6516910, essv6539693, essv6336101, essv6285156, essv6266618, essv5462212, essv6151817, essv6453592, essv6482830, essv5859297, essv5880637, essv5962661, essv6262627, essv6415498, essv5658975, essv5666741, essv5934702, essv5547656, essv6164239, essv6354808, essv6337770, essv6291901, essv5690860, essv5494769, essv5743926, essv6415706, essv5542521, essv5698868, essv6464466, essv5984767, essv5886085, essv5405193, essv6242494, essv6153774, essv6328264, essv5573174, essv6482673, essv6187187, essv5590856, essv6434526, essv5672512, essv5926506, essv5928148, essv5953469, essv6327144, essv6311896, essv6194235, essv6077602, essv6532242, essv5736001, essv6522680, essv6576627, essv5410442, essv5541894, essv6189286, essv6292453, essv5879390, essv5877081, essv6112991, essv6399237, essv6470850, essv5897805, essv5954437, essv5758212, essv6009044, essv5951263, essv5877727, essv6004093, essv6596438, essv6171214, essv6187942, essv5486845, essv6495777, essv6380466, essv6259073, essv6176094, essv5731048, essv6261325, essv6194178, essv5841176, essv6406087, essv5854615, essv6018534, essv6446452, essv6419891, essv5805812, essv6170413, essv6434718, essv5496996, essv5566727, essv5746883, essv6480312, essv5519691, essv6037208, essv5555815, essv6206600, essv5831941, essv6169228, essv6198050, essv5503486, essv6286773, essv6213800, essv5502522, essv5977220, essv6506068, essv5462191, essv6354289, essv6588020, essv5983026, essv5848884, essv6305125, essv5936884, essv5989744, essv6402557, essv6230065, essv5906465, essv5532175, essv6308989, essv6045696, essv6094508, essv5827625, essv6173980, essv5470612, essv5844248, essv6166839, essv5995767, essv5689139, essv6155679, essv6593734, essv5688269, essv6110829, essv6437823, essv6340538, essv6525997, essv5489139, essv5431543, essv5802412, essv6077322, essv6435254, essv6475152, essv6124307, essv6165969, essv6351234, essv5444493, essv5699187, essv6259337, essv5415600, essv5774606, essv6047729, essv6236269, essv5992999, essv5790853, essv6319511, essv5625807, essv5655700, essv5902371, essv5891775
SamplesHG00613, NA19312, HG00537, NA18605, HG00257, NA18520, NA18595, HG00182, NA19904, NA18951, HG00619, NA18534, NA18530, NA18630, NA18871, HG00418, NA12286, NA19081, NA19819, HG00328, NA18523, NA19437, HG00705, HG00437, HG00500, HG01173, NA11920, HG00171, HG00186, HG00464, NA18501, NA19093, HG00565, NA18526, NA19311, HG00160, NA19435, HG01079, NA18545, NA18603, NA19319, HG00463, HG00657, HG00614, HG01051, HG01365, HG00189, HG00577, NA19453, HG01082, NA18953, HG01488, HG00428, HG00542, NA19449, NA19920, HG01350, NA18489, NA18541, NA18546, HG01167, NA18507, HG00683, HG00698, HG00111, HG00334, HG00581, NA18963, HG00404, NA07051, NA19651, HG01101, HG01134, HG01168, NA19257, NA19682, NA19701, HG00319, NA20322, NA18505, NA18557, NA19472, NA18943, NA18950, HG01171, NA18596, NA18628, NA18949, NA18868, NA20340, HG00592, HG01107, HG01550, HG00556, HG01148, NA19085, NA18967, NA18627, NA19076, HG00593, NA19390, HG00421, HG01378, NA18635, NA19917, HG00259, NA19443, NA18623, NA19107, NA19444, NA18617, NA18990, NA18636, NA18592, NA19083, NA19088, NA18956, NA19429, NA19908, NA18959, HG00533, NA18609, HG00125, HG01360, NA11831, NA18637, NA19075, NA18916, HG00174, NA18593, HG00284, NA19457, NA12777, NA19700, NA19082, NA20341, HG00662, NA19324, NA19728, NA12751, NA19190, NA19055, NA19247, NA19129, NA19189, NA19771, HG00233, HG00653, HG01191, NA19374, HG00640, HG00732, NA19384, HG00325, NA18968, NA18986, NA19102, NA20753, NA19005, NA18510, NA19002, HG00265, HG00501, HG00672, HG01170, HG01069, HG00249, NA18961, HG01080, NA20815, HG00524, NA19720, HG00512, HG00525, NA18562, NA19074, NA19159, HG01060, NA18910, NA19382, NA18579, NA19462, HG00589, HG01149, NA18606, NA18543, NA18940, NA18987, NA18999, HG01137, NA18597, NA19921, HG00590, HG01190, NA18552, NA19376, HG00443, NA18567, NA19078, HG00611, NA12749, HG00650, NA18538, NA19394, NA19403, HG00663, NA19116, NA18631, NA19431, NA18560, HG00580, NA20287, NA18544, NA19434, HG00448, NA18602, HG00654, HG01390, NA18614, NA19452, HG00530, NA18533, NA11992, NA12003, NA19064, NA20810, HG01464, HG00285, NA18944, NA19327, NA18917, NA19717, HG00656, NA12546, NA19160, NA19732, NA19371, NA20543, HG00708, NA18610, NA19070, NA19470, NA12045, NA18984, NA19315, HG00693, HG00566, HG00320, HG00625, HG00690, NA18532, NA18549, NA18574, NA18853, HG00183, HG00442, HG01374, HG00473, NA18981, NA19350, HG01102, HG01462, NA18908, NA19381, NA19473, NA20806, HG00626, HG00684, HG00336, HG00476, NA19448, HG00671, NA19087, HG00272, NA19092, NA19468, NA20538, HG00702, HG00704, NA18555, NA19385, NA19661, NA19456, NA18519, NA19058, NA19746, HG00531, HG01067, NA18553, NA19439, HG00312, HG00361, HG01198, NA18964, NA19445, NA19625, HG00152, NA18861, NA19436, HG00318, HG00536, NA20522, NA20809, NA18561, NA19404, HG01055, NA18952, NA18975, NA07056, HG01342, NA18612, HG00596, NA19783, NA19401, HG00449, HG00310, NA18550, NA18570, NA19003, NA19072, NA18511, NA19455, NA20299, NA20294, NA18948, NA19430, NA18972, NA19338, HG00173, HG00326, NA18573, NA18608, NA18542, HG00553, HG00446, NA19461, HG00190, HG00122, NA19210, HG00701, HG01188, HG01461, HG00557, HG00578, NA19108, NA18965, NA18488, NA18873, NA19147, HG00188, NA18626, HG00479, NA19438, NA19654, HG01133, NA18632, HG00635, NA19762, HG00543, NA18559, NA19726, NA19067, NA18912, NA19982, NA18624, HG01140, NA19054, NA19059, NA20515, NA19652, HG00583, NA18566, HG00337, NA11994, NA19068, HG00140, HG00638, NA18960, HG00180, NA18618, NA20757, HG00689, NA19396, NA18856, HG00141, NA19397, NA19398, NA19440, NA19066, HG00178, HG00419, NA18547, NA19256, NA19835, NA20282, HG00264, NA18982, NA19681, HG00403, NA18634, NA20589, HG00584, NA18539, NA19213, NA19676, HG00620, NA19377, NA19153, NA18620, NA19759, NA18572, NA19703, NA19375, NA19393, NA19373, HG00629, NA18486, HG00559, NA20344, HG00260, NA18502, NA19657, HG00560, NA19713, NA18558, NA19098, NA19901, HG00273, NA18504, NA18564, NA18942, NA19347, NA19332, NA19909, HG00513, NA18988
Known GenesSCN3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667791
Frequency
Sample Size1151
Observed Gain0
Observed Loss436
Observed Complex0
Frequencyn/a


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