A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676978



Internal ID9596397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45111212..45111405hg38UCSC Ensembl
chr11:45132763..45132956hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6086494, essv6019559, essv6180022, essv5516715, essv5488476, essv6002833, essv5988950, essv6215970, essv6398515, essv5742876, essv6506430, essv6512406, essv5853841, essv5455075, essv6019275, essv5772958, essv6589810, essv6545761, essv6017562, essv5605051, essv6579468, essv5518797, essv6525202, essv5435191, essv6141613, essv6214441, essv5813102, essv6220189, essv6438856, essv5779640, essv6473980, essv6406500, essv5458519, essv5860952, essv6563741, essv5613388, essv6262363, essv5661111, essv5420446, essv6243999, essv6254276, essv6571085, essv5858342, essv5491052, essv5870808, essv6389723, essv6199097, essv6228516, essv5967146, essv5574575, essv6167641, essv5779855, essv5789539, essv6009351, essv6034650, essv5441423, essv5932811, essv5594214, essv5872849, essv5611390, essv5997863, essv6004028, essv5588283, essv5926066, essv6123541, essv6486419, essv5710454, essv6054283, essv6336701, essv6119854, essv5991696, essv5552552, essv5950775, essv6575251, essv6421703, essv6571797, essv5632255, essv5760819, essv6348500, essv5710490, essv6396294, essv5954473, essv5775959, essv5809918, essv6071540, essv6234849, essv5556175, essv6411109, essv6345341, essv5717415, essv6436108, essv6504247, essv5562712, essv6472041, essv5980579, essv6162939, essv6434802, essv5893862, essv5485559, essv5788866, essv6205536, essv5803734, essv6208689, essv6207807, essv5440593, essv6155476, essv5966501, essv6414342, essv5850559, essv6085073, essv6421121, essv6576688, essv5420869, essv5483663, essv6037461, essv6333455, essv6447325, essv6005393, essv6479941, essv5418794, essv6579013, essv6541747, essv5787101, essv5929240, essv5740119, essv6030465, essv5839346, essv5772398, essv5842037, essv6066918, essv5445984, essv5466496, essv6550406, essv5648704, essv5972254, essv6171814, essv6195529, essv5417177, essv5731490, essv5846565, essv5686107, essv5796714, essv6318961, essv6238735, essv6498465, essv5536333, essv6102064, essv5798446, essv6450584, essv6230417, essv5654641, essv5596214, essv5930086, essv5563812, essv5815162, essv6233575, essv6273416, essv6386508, essv5567251, essv5651154, essv5850059, essv6586805, essv6480525, essv5553415, essv6474734, essv6538260, essv6107522, essv6272195, essv5554877, essv6426121, essv6424691, essv6085839, essv5478643, essv5661005, essv5861059, essv6451516, essv5553479, essv6524077, essv5458593, essv5671853, essv6354776, essv6321105, essv5432326, essv5901382, essv6453191, essv6030919, essv6211178, essv6543467, essv6383602, essv5775114, essv5791087, essv6544244, essv5890781, essv5749526, essv5894404, essv5421808, essv5458144, essv6594303, essv6290413, essv5504710, essv5822516, essv6289784, essv6138006, essv5683557, essv6366676, essv5769619, essv5644514, essv6271692, essv5727758, essv5667905, essv6589560, essv6137715, essv6305571, essv6476569, essv6560037, essv6068453, essv5489893, essv6105791, essv6479856, essv6163876, essv6179064, essv5980323, essv6138985, essv5630152, essv6377270, essv5500041, essv5636054, essv6361188, essv5942463, essv5678077, essv6596507, essv6180691, essv5839822, essv5840099, essv6113404, essv5505419, essv6230588, essv6455799, essv5900996, essv5777742, essv5858532, essv6304146, essv6206549, essv6303680, essv6347568, essv5403263, essv6125769, essv6071045, essv5808353, essv6268848, essv5513743, essv6412848, essv6000150, essv5427130, essv6383544, essv5845822, essv5425412, essv5800768, essv5733168, essv5490755, essv5660315, essv6475478, essv6501904, essv5973996, essv6096974, essv5654010, essv5936514, essv6481471, essv5687718, essv6417132, essv5524536, essv6105403, essv6517884, essv6148542, essv6490953, essv6337230, essv5427207, essv6046941, essv6043753, essv5889400, essv5428615, essv5926497, essv5957051, essv5853236, essv6421843, essv6506733, essv5463379, essv5698184, essv5914219, essv5808048, essv5959860, essv5842988, essv5569629, essv6398424, essv5500244, essv6044980, essv5562937, essv6429465, essv5798607, essv6346921, essv5899299, essv5992409, essv6259474, essv6008396, essv6421698, essv6111458, essv5519895, essv6205602, essv5666770, essv6265206, essv6559814, essv5975264, essv5441924, essv5458938, essv5722504, essv6206132, essv5832878, essv5710843, essv5537115, essv5457462, essv5614103, essv6555401, essv5975275, essv6587175, essv6159104, essv5570632, essv5669227, essv6245876, essv5978952, essv5400324, essv6049965, essv5738115, essv5856686, essv6469388, essv6587131, essv5580233, essv5464165, essv5580624, essv6176382, essv5518125, essv6490916, essv5936536, essv5767020, essv5925366, essv5825572, essv6344558, essv5992372, essv5763363, essv5727837, essv5495154, essv6144953, essv5615095, essv5541731, essv6276644, essv6084120, essv6477084, essv6407950, essv6181804, essv5656477, essv5953366, essv5903041, essv6180128, essv5789132, essv5405343, essv5530665, essv6473190, essv5482752, essv6572389, essv6099634, essv5646648, essv5984291, essv5625712, essv5426536, essv6452176, essv5654294, essv6122748, essv6399020, essv6533438, essv5912077
SamplesHG01357, HG00613, HG01441, NA11881, NA18621, HG00309, NA12154, NA12489, NA07347, HG00257, NA20771, HG00182, NA18951, NA20527, HG00619, HG01353, NA18630, HG00418, HG01519, NA12286, NA12342, HG00328, HG01173, NA11920, HG01083, HG00112, HG00274, NA12347, HG00131, NA20544, NA11918, HG01079, NA10847, NA18603, HG01389, NA20759, HG00657, HG01365, NA18953, HG01488, NA12828, NA18947, HG00542, HG00139, NA19144, NA18546, NA12058, HG00698, NA20805, HG00111, HG00334, HG00581, HG00404, HG00280, HG00335, HG00177, HG00319, NA20755, NA12287, NA20521, NA20803, HG01171, HG00353, NA18949, HG00269, HG00592, NA12414, HG01107, HG01550, HG00158, NA12763, HG01375, NA12004, NA18635, NA19917, NA18536, NA18622, HG00259, HG00096, HG01048, HG01061, NA20530, HG01183, NA18636, HG01124, NA19083, HG00315, NA12761, NA18956, NA19066, HG00338, NA11933, NA18959, NA20541, HG00533, NA18609, HG00178, HG00258, NA11831, HG01113, HG01136, NA11894, NA18637, NA20282, NA20520, HG00264, NA11995, NA18916, HG00243, HG00254, NA19663, NA19679, HG00284, NA12830, NA19700, HG00343, NA12144, HG00584, NA18539, NA19324, NA20773, HG00114, NA12751, NA12006, NA20769, HG00306, HG00373, HG00436, HG00620, NA19380, HG01111, NA19786, HG00124, NA12046, NA18537, NA18620, NA19129, NA19172, NA19759, NA19771, NA12892, NA18633, NA18572, NA20536, HG00268, HG00640, HG01066, NA20760, HG00732, NA12778, HG00325, NA12348, HG00185, NA18486, HG00263, NA06986, NA12275, NA20344, HG00176, HG00260, NA19657, NA20540, HG01073, NA18558, NA18977, HG00501, HG00672, HG00282, HG00232, NA19704, HG00249, NA11892, NA18487, NA18564, NA18942, HG00116, HG00277, HG01080, NA20815, NA18613, NA20797, HG00513, HG00524, NA20542, NA20582, NA18988, HG00512, HG01070, NA20766, HG00525, NA12283, NA18562, HG01060, HG01383, NA19789, NA18945, HG01094, NA12891, NA18987, NA10851, NA12890, NA18582, NA20525, HG01137, NA19921, NA20537, HG00590, HG01190, NA18552, NA19729, NA20756, NA18983, HG00611, HG01334, NA06984, NA12413, NA19009, HG00138, NA12156, NA12889, NA19116, HG00262, NA18631, NA18989, NA19719, NA18602, NA19755, NA19099, NA12878, NA20507, NA20513, NA11992, NA12003, NA19064, HG00123, NA19749, HG00281, HG00285, NA18944, NA11993, NA12399, NA19717, NA12546, NA19655, HG00142, HG01366, HG00422, HG00708, NA18610, NA20758, HG01251, NA12045, NA11932, HG01125, NA11829, HG00251, HG01177, HG00320, HG00275, HG00324, HG00625, NA20528, HG00183, HG01522, NA18981, HG00137, HG01489, NA19473, NA20524, NA20806, HG00626, HG01377, HG00143, HG00336, HG00671, NA19087, NA20772, HG00345, NA18555, HG00271, HG00278, NA20519, NA19779, HG00136, NA07000, NA12775, NA19746, HG00531, NA18553, HG00327, HG00361, HG00323, NA12827, NA18964, NA12718, HG00313, NA12043, NA19152, NA12249, NA19436, HG00318, NA12750, NA20514, NA11930, NA07037, NA20522, NA20809, HG01250, NA20503, HG01072, NA20785, NA20506, HG01055, NA18952, NA20516, HG00731, NA19401, HG00736, NA20508, HG00310, NA19072, HG00261, HG00707, NA20802, NA19670, NA11931, HG00117, HG01492, NA20816, NA20529, NA20342, HG00173, NA18573, NA20786, HG01188, HG01204, NA12776, NA19648, HG00651, NA11893, HG00331, NA18965, NA19355, NA19474, NA19780, NA12044, HG01551, HG01133, HG00256, HG00342, HG00635, NA19762, HG00543, HG00321, HG00339, NA19726, NA20533, NA18624, HG00179, HG01140, NA19059, NA20356, NA20515, NA19652, HG00583, NA18566, NA11994, HG00140, NA12155, HG00180, NA07357, NA20504, NA19722, HG00372, HG01047, HG00689, NA18856, HG00628, HG00330
Known GenesPRDM11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676978
Frequency
Sample Size1151
Observed Gain0
Observed Loss379
Observed Complex0
Frequencyn/a


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