A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668808



Internal ID9588227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28534679..28535528hg38UCSC Ensembl
chr7:28574297..28575146hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1189e199
Supporting Variantsessv5551238, essv5424009, essv5936988, essv5788417, essv5746197, essv5691170, essv6342097, essv5457919, essv5861129, essv6467192, essv5772824, essv6552757, essv5607868, essv6321274, essv5794058, essv6047259, essv6200792, essv5934544, essv5586641, essv6278902, essv6327253, essv5831351, essv6295697, essv5921607, essv5724084, essv5808904, essv5776742, essv6014864, essv5876977, essv5596173, essv5598294, essv5536549, essv6177280, essv5657300, essv6584194, essv6319496, essv5421110, essv6573361, essv6098839, essv5619361, essv6162432, essv5649396, essv6581804, essv6026546, essv6116469, essv6590203, essv6135176, essv5699227, essv6392165, essv5871185, essv5681483, essv6038714, essv5980613, essv5494096, essv6053398, essv5970487, essv5575909, essv5416458, essv5769510, essv6323249, essv6562169, essv5787839, essv5744905, essv5624617, essv5936073, essv6394754, essv5565597, essv5953643, essv6051786, essv5511051, essv6382747, essv6273851, essv6436310, essv6533147, essv5491876, essv6571619, essv5566432, essv5896567, essv6510295, essv5910336, essv5627469, essv6516979, essv6281082, essv5483323, essv5923785, essv5419005, essv5639769, essv6496183, essv5838921, essv5582534, essv6090221, essv5676546, essv5586312, essv6438097, essv6122092, essv5590964, essv6454325, essv5512807, essv5783026, essv6463026, essv5900226, essv6286091, essv5547497, essv6398953, essv6176448, essv6453663, essv6460100, essv5705498, essv5395715, essv5805045, essv5407011, essv5404922, essv5422026, essv5513124, essv5586837, essv5422766, essv5760466, essv5987881, essv5417416, essv6504106, essv5762932, essv6323911, essv6036258, essv5820703, essv6204086, essv5910000, essv5819987, essv6362569, essv6122540, essv5697377, essv6150095, essv6511687, essv5623918, essv6541991, essv6127512, essv5484657, essv5608339, essv5610325, essv5520626, essv5645176, essv6114751, essv5507276, essv5617198, essv5737234, essv6103985, essv6110618, essv5808378, essv6095563, essv5967982, essv5400674, essv5922218, essv6566162, essv5531172, essv6232167, essv5946389, essv6372367, essv6060456, essv5508598, essv6463233, essv6358221, essv5923872, essv5905731, essv6242997, essv5918490, essv5884844, essv5451609, essv5493260, essv6376608, essv5879663, essv5860601, essv5514250, essv5913211, essv6081054, essv6350384, essv6270970, essv5962831, essv6539111, essv5746173, essv6268889, essv6305127, essv5766667, essv6009945, essv5900432, essv5525535, essv6143827, essv5448212, essv6093553, essv6110535, essv6494886, essv5972253, essv5579240, essv6310868, essv5823259, essv5494838, essv5536921, essv6437380, essv5662653, essv6202217, essv5638685, essv6461370, essv5459382, essv5952743, essv6157049, essv5955156, essv6256296, essv6582018, essv5625528, essv5878607, essv5703722, essv5834810, essv5627433, essv5638608, essv6354918, essv6429790, essv5682653, essv5515669, essv5953247, essv5695930, essv5683809, essv6288499, essv5674527, essv5558613, essv6537399, essv5722104, essv5962768, essv6198824, essv5484429, essv6355931, essv5798639, essv6598070, essv6224299, essv6134107, essv5568878, essv6515158, essv6213286, essv5990258, essv6145852, essv5676121, essv5575030, essv6276957, essv5764272, essv5600812, essv6002501, essv5816559, essv5991342, essv5817559, essv5927388, essv6399662, essv5910530, essv6034798, essv6122372, essv6198044, essv5808696, essv6527761, essv5586569, essv5472959, essv6568636, essv5804957, essv5870054, essv6215838, essv5530825
SamplesNA19701, HG01173, NA20529, HG00143, NA19703, HG01462, NA19909, NA19664, HG01066, NA20816, NA20752, NA19350, HG00153, NA18616, HG01518, HG01051, NA20356, NA19920, HG00261, NA20771, NA20806, NA19067, NA18602, HG00337, HG00271, NA19373, NA19379, HG00272, NA20798, HG01167, NA20774, HG01168, NA18923, NA19062, NA07048, NA18571, HG01083, HG01365, HG00334, NA19904, HG00243, NA20291, HG00158, NA11930, HG00512, HG00139, HG01069, NA20278, HG00335, HG00148, HG00325, NA11932, NA11994, HG00534, NA19235, HG01048, NA20342, HG00326, NA20757, NA20127, NA18867, NA20515, NA12777, HG00443, HG00268, HG01171, NA19403, NA18933, HG01498, HG00275, HG01149, HG00284, NA18573, NA19461, NA11919, HG00651, NA12829, NA19453, NA06989, NA19099, NA19761, HG00152, NA19452, HG00463, NA19469, HG00246, HG01107, HG01148, NA19375, NA19003, HG00258, HG00611, NA19440, NA19390, HG00336, NA12272, HG00734, NA19444, HG01375, NA20778, NA19679, NA19470, NA19428, NA19324, NA20544, HG01137, NA20281, NA19360, HG01342, NA18631, HG00259, NA19779, HG00342, HG00267, NA20510, NA18636, NA20786, NA11843, NA20758, NA19116, NA20826, NA19900, NA20503, NA20502, NA11892, NA19312, NA19463, NA18623, NA20585, NA12154, NA19074, NA18487, NA19431, NA19676, HG00114, HG01441, NA11830, NA19700, HG01098, HG00536, NA19397, HG00249, NA11829, NA18561, NA20813, NA18917, HG00367, HG01465, HG00103, NA19819, NA20805, NA19777, HG01456, HG00566, NA20808, NA20507, HG01140, NA12413, NA12341, NA19068, NA19396, HG00127, NA19660, NA20796, HG01366, HG00173, NA20317, NA19916, NA12348, HG00736, HG00346, NA12283, HG00247, NA19404, NA12761, HG01067, HG00120, HG00236, HG00262, NA19719, HG01072, NA20340, NA18560, NA19731, NA18617, NA19471, HG01440, NA19901, NA19189, NA18520, HG00159, NA18908, HG00464, HG00108, NA11831, HG01183, HG01136, HG00183, NA19707, NA18934, NA19462, NA19347, HG00190, NA20809, HG01515, NA19391, NA18991, NA19658, NA20770, NA20344, HG01390, NA18566, NA20299, NA19449, NA19655, NA18856, HG01383, HG00613, HG00525, NA18853, NA20282, HG00276, HG01204, NA18576, NA20296, HG00124, NA20773, NA12716, HG00119, NA19834, NA19473, HG01253, HG00136, NA19435, NA19380, NA07051, NA12046, NA19786, NA20797, NA06986, NA19818, NA19376, NA19078, HG00111, NA20582, HG00329, NA20334, NA19713, HG01055, HG00123, NA19213, HG00372, HG00252, HG01377, NA18984, HG01378, NA19004, HG01082, HG01112, HG00554, HG01061
Known GenesCREB5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668808
Frequency
Sample Size1151
Observed Gain0
Observed Loss261
Observed Complex0
Frequencyn/a


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