A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677250



Internal ID9943355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13382063..13447455hg38UCSC Ensembl
Outerchr1:13382063..13448125hg38UCSC Ensembl
Innerchr1:13693316..13773922hg19UCSC Ensembl
Outerchr1:13692845..13774592hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3866063
hg1981748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e199
Supporting Variantsessv6259133, essv6419552, essv6467952, essv6099279, essv5801082, essv6426759, essv5993089, essv6539412, essv5506285, essv6091711, essv6494460, essv6126859, essv6106374, essv5438891, essv5643549, essv6227071, essv6290116, essv5840128, essv5689030, essv5914063, essv5609237, essv6567377, essv5482648, essv6122796, essv6577232, essv5592528, essv5624449, essv6317460, essv5787306, essv5770718, essv6299158, essv6547366, essv5971740, essv6205323, essv5399066, essv5551190, essv5961013, essv6447666, essv6549067, essv5874786, essv6375713, essv5452692, essv5963570, essv5721939, essv5689018, essv6050952, essv5442730, essv6434893, essv6263879, essv6282313, essv5445411, essv6481941, essv5580409, essv5658396, essv5738586, essv5498942, essv5995165, essv5831640, essv5465187, essv6016469, essv6090899, essv6430040, essv6333328, essv5672140, essv6205156, essv6293245, essv6060519, essv6555956, essv6302203, essv5531610, essv5673376, essv5665030, essv5922593, essv5791414, essv6442458, essv6482111, essv6200333, essv5862508, essv5802596, essv5841136, essv6367797, essv6588114, essv6385387, essv6109287, essv6029270, essv5875284, essv5858683, essv6186590, essv6291545, essv6033252, essv5730312, essv5518354, essv6243866, essv6312297, essv5768557, essv6299635, essv6394086, essv6489497, essv5849809, essv6444119, essv6357193, essv5763935, essv5546761, essv5694085, essv6257862, essv5555920, essv6500842, essv5774482, essv5441827, essv5770578, essv5916554, essv6551081, essv5525066, essv6445097, essv5636910, essv5817593, essv6100327, essv6198094, essv5504628, essv5658158, essv5486023, essv6037783, essv5826907, essv6200512, essv5921247, essv5869779, essv6409419, essv6501029, essv5697099, essv5553955, essv5909667, essv6479897, essv5628476, essv6052604, essv6292384, essv5880781, essv5966012, essv6507108, essv5523796, essv6312058, essv6143091, essv6363609, essv6587294, essv5970382, essv6187798, essv5601828, essv5496808, essv6250922, essv6144480, essv5954756, essv5594478, essv6359450, essv5486971, essv6004874, essv5540071, essv5517990, essv6327403, essv6219751, essv6230295, essv6031979, essv5881226, essv6577546, essv5424977, essv6514329, essv6357442, essv6084648, essv6274682, essv5917533, essv5747290, essv5987496, essv5441353, essv6296099, essv5597469, essv5525258, essv6031851, essv5606094, essv5971773, essv5772410, essv5629085, essv5570642, essv5679449, essv6195056, essv6110126, essv6405681, essv5979545, essv5523499, essv6450911, essv5511881, essv6549917, essv6357000, essv5820938, essv5853340, essv5475309, essv5738416, essv6296065, essv6420554, essv6563396, essv5474777, essv6328702, essv5876831, essv6048639, essv6004499, essv5605264, essv5938253, essv5975654, essv5684824, essv6430681, essv6228043, essv6450445, essv6010033, essv6480431, essv6298928, essv6135544, essv5607676, essv5529453, essv6480724, essv5987245, essv6218065, essv5880236, essv6324368, essv5412063, essv5439742, essv6163609, essv5965863, essv5403318, essv6333545, essv5628884, essv6509471, essv6014346, essv5574881, essv6018709, essv6138000, essv6020829, essv6405795, essv6328590, essv5536385, essv6567588, essv6155347, essv6162179, essv5411514, essv6302693, essv6520541, essv5803377, essv5770636, essv5996130, essv5666996, essv6549335, essv6272002, essv6255980, essv6317094, essv6293588, essv5925530, essv5495789, essv5916764, essv5550742, essv5441766, essv6588553, essv6329079, essv5695307, essv6341865, essv6489892, essv6421184, essv5679065, essv6419368, essv5868736, essv5577658, essv6086452, essv5512912, essv5472204, essv5418377, essv5565179, essv6233928, essv6585651, essv6470634, essv6340167, essv5789303, essv6412558, essv6163440, essv5635550, essv5630769, essv5794097, essv5530046, essv5515406, essv6402695, essv5505391, essv5614699, essv6525110, essv5784941, essv5433465, essv6391028, essv5630886, essv5431142, essv5628477, essv6251361, essv6312996, essv6402877, essv5872377, essv6134662, essv5567845, essv5988175, essv5629564, essv5909480, essv6443952, essv5773382, essv5571273, essv5662423, essv5594943, essv6349483, essv5614358, essv5761073, essv5815342, essv5995653, essv6344273, essv6327408, essv6416723, essv5544795, essv6186745, essv6098892, essv5907131, essv6582853
SamplesNA20509, NA20588, NA19394, NA19701, NA20761, HG00650, HG00542, HG00442, NA20529, NA19703, HG00608, NA20766, NA20508, HG00671, HG00559, NA19399, NA20783, NA20514, NA20816, NA20752, NA20802, NA20512, NA19350, NA19359, NA20294, NA19355, NA20332, NA19377, HG00449, NA20517, HG00654, NA19443, NA20356, NA19920, NA20771, NA20806, HG00693, HG00663, NA20814, NA19446, NA19373, NA19379, HG00589, NA19319, NA19315, NA20798, NA20589, NA20774, NA20756, NA20795, NA20768, NA19457, NA20287, NA19904, NA19384, HG00537, NA20291, HG00512, NA20759, NA20539, NA20518, NA20278, NA20775, NA20812, NA19372, HG00534, HG00705, NA20342, NA20757, NA20127, NA19985, NA20515, NA20755, NA19921, NA20753, NA20535, NA19908, NA20800, HG00443, NA19403, HG00557, HG00657, NA20810, NA20760, NA19455, NA20314, HG00556, HG00583, NA20519, HG00692, NA20525, NA19461, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, NA19453, NA19452, HG00704, HG00463, NA19469, NA19318, NA19395, NA19625, NA19375, NA20799, HG00611, NA19440, NA19390, HG00625, NA20276, NA19712, NA19434, NA20815, HG00580, NA19444, NA19331, NA20520, NA20790, NA20530, NA20527, NA19835, HG00473, NA20792, NA20778, NA19470, NA19428, NA19324, NA19311, NA20544, NA20281, NA19360, HG00662, HG00418, HG00620, NA19328, HG00614, HG00513, HG00478, NA19468, NA19474, NA20510, NA20289, NA20786, NA20758, NA20826, NA19711, NA20503, HG00595, NA20502, NA19430, NA19316, NA19312, HG00628, NA19463, NA20585, NA20754, NA19429, NA19346, HG00581, NA19431, NA20772, HG00593, HG00626, HG00403, NA19700, HG00592, NA20543, HG00536, NA19397, NA19466, HG00524, NA19914, NA19332, NA19704, NA20531, NA20813, NA20532, HG00699, NA19819, NA19393, HG00566, NA20808, NA20346, NA20507, NA20537, NA19374, NA19396, NA19381, NA20796, HG00501, NA19382, NA19448, HG00702, HG00689, HG00448, NA20586, NA20317, NA19916, NA20769, HG00634, HG00610, NA20540, NA19313, NA20513, NA20336, HG00590, NA20541, NA19404, NA19383, HG00683, NA20819, NA19917, NA20340, NA19371, NA19385, HG00422, NA19471, NA19317, HG00427, NA20811, NA19901, NA19456, NA19445, NA20533, HG00530, HG00419, NA19451, HG00464, NA20818, HG00543, HG00560, HG00629, NA19437, NA19707, NA20787, HG00596, NA20524, NA20505, HG00428, NA19462, NA19347, NA20809, HG00653, HG00577, HG00701, NA20536, NA19391, NA19327, HG00475, HG00436, NA19982, HG00584, HG00533, HG00500, NA20506, NA20126, NA20770, NA20344, HG00619, HG00708, HG00635, NA20299, NA19449, NA20538, HG00613, HG00525, NA20282, NA19338, NA20828, NA20542, NA20534, NA19436, NA20765, NA20526, NA20296, NA19401, HG00476, NA20773, NA20522, NA20801, NA19834, NA19321, HG00565, NA19473, NA19435, NA20804, NA19380, NA20785, NA19334, HG00607, NA19439, NA20504, NA19467, NA20516, NA20803, NA20797, NA20341, NA19818, NA19376, NA19398, HG00707, HG00672, NA20348, HG00578, NA19438, NA20582, NA19472, HG00421, HG00656, NA20334, NA19713, NA20807, HG00698, NA20528, HG00472, NA20322, HG00437
Known GenesPRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677250
Frequency
Sample Size1151
Observed Gain0
Observed Loss320
Observed Complex0
Frequencyn/a


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