A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668746



Internal ID9588165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41806090..41806355hg38UCSC Ensembl
Outerchr21:41806053..41806405hg38UCSC Ensembl
Innerchr21:43226250..43226515hg19UCSC Ensembl
Outerchr21:43226213..43226565hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6479710, essv5502052, essv5983156, essv6251386, essv6104828, essv5881567, essv6430094, essv6223333, essv5930497, essv6497238, essv6446189, essv5794375, essv5524660, essv6546618, essv6114337, essv6536013, essv6174729, essv5926522, essv5669887, essv5470600, essv6532907, essv6146906, essv5759635, essv5546285, essv6176139, essv5728884, essv6547129, essv5864216, essv6118953, essv6023178, essv6242409, essv6367409, essv6501826, essv6463497, essv6295197, essv5860795, essv5632937, essv5985392, essv5463213, essv5607211, essv5675815, essv6328307, essv6343976, essv6576341, essv5404867, essv5996870, essv5483159, essv5704512, essv6254900, essv5599575, essv5505881, essv6579764, essv5705441, essv5491371, essv5612697, essv6055762, essv5566026, essv6379686, essv5736674, essv5986704, essv6028825, essv6084480, essv6488998, essv6254110, essv6024550, essv6137007, essv5688332, essv6431604, essv6481391, essv6243922, essv5946016, essv5423435, essv5829763, essv6150351, essv5619786, essv5669601, essv5968724, essv6197399, essv5830757, essv6329367, essv6493078, essv6043155, essv6099198, essv5922157, essv6102373, essv5493313, essv5789100, essv5593851, essv5794426, essv6171759, essv6184857, essv5865436, essv6200308, essv6019760, essv5562217, essv5607510, essv6545856, essv6055471, essv5605679, essv5997699, essv6397168, essv6132750, essv6594803, essv6093157, essv6478720, essv6438032, essv5648008, essv5905832, essv6530051, essv5480802, essv5572948, essv5546135, essv5543035, essv5701025, essv5862259, essv5936389, essv5556349, essv5680434, essv6236670, essv6180003, essv6584629, essv5945542, essv5773635, essv5643078, essv6229918, essv6001494, essv5980419, essv5478233, essv5513054, essv5749124, essv5901255, essv6549636, essv5401340, essv6224141, essv5405736, essv6068217, essv5406888, essv6095060, essv6391428, essv6214770, essv6431816, essv5856339, essv6016826, essv6192132, essv5914761, essv6581924, essv6247861, essv6513497, essv5935094, essv6144352, essv5991975, essv5863552, essv5998026, essv6322095, essv6479629, essv5781112, essv5513424, essv6235048, essv6148554, essv6245630, essv5435692, essv6045621, essv5584473, essv6034589, essv6286964, essv6333258, essv5513938, essv5759237, essv6202505, essv6418484, essv5681683, essv6122905, essv6074233, essv5860518, essv5526767, essv5563934, essv5772134, essv5705384, essv6044359, essv5407584, essv6471020, essv6485805, essv5759864, essv5764848, essv6495156, essv5408753, essv6314773, essv5742751, essv6449303, essv6225666, essv5728068, essv5960921, essv6196107, essv6372672, essv5482505, essv5991476, essv5927202, essv6120654, essv6201642, essv6145736, essv6335556, essv5469170, essv5540483, essv6027683, essv6593751, essv6115929, essv5528061, essv6107128, essv5642206, essv6470812, essv6394817, essv5760044, essv6370537, essv5584279, essv6598058, essv6209961, essv6486737, essv6024578, essv6443563, essv6187443, essv5448249, essv6448516, essv6171084, essv5883086, essv6336900, essv6482640, essv5566542, essv6434418, essv5808725, essv6361089, essv5820497, essv5511978, essv6233609, essv5871327, essv6064007, essv5418858, essv6434524, essv6257964, essv5665641, essv6341198, essv5510092, essv6092316, essv5544980, essv6074036, essv6278279, essv6491927, essv5785158
SamplesHG00613, NA19312, HG00313, NA19625, HG00537, HG00252, HG00318, HG00536, HG00607, HG01440, NA19712, HG00257, NA18595, HG00619, NA18534, HG00344, HG01353, NA18530, HG00418, HG01075, NA18561, NA19819, NA19404, HG00328, HG01055, NA18523, HG00705, HG00437, HG00500, HG01083, HG00274, HG00186, HG00464, HG00131, NA19311, HG00449, HG00310, HG00707, NA19223, HG01079, HG01389, HG00463, NA18516, HG00614, HG01051, HG01365, HG01488, HG00428, HG00375, HG01174, NA19920, NA18542, HG01350, HG00139, NA18489, NA19379, HG00106, HG00701, HG00683, HG00698, NA19834, HG00111, HG00334, HG00581, HG00187, HG00651, HG00280, HG00557, HG01101, HG00331, HG00253, HG00699, NA18557, HG01171, NA18626, HG00353, HG00479, NA18596, NA20340, HG00256, HG00342, NA19762, HG00154, HG01107, NA18559, HG00339, NA19463, HG00158, HG00556, NA19428, NA19383, HG00346, NA18624, HG00250, NA18627, NA19076, HG01375, HG00421, HG00583, NA18536, NA18576, NA18622, NA18623, NA20757, HG01048, HG01061, NA18990, HG00692, HG00689, NA18636, NA19396, HG01124, NA19083, NA19397, HG00315, HG00330, NA19398, HG00338, NA20541, HG00533, HG00258, NA19773, NA19663, HG00276, NA19457, NA19700, HG00237, HG00343, NA19082, HG00584, NA19316, NA20341, HG00662, NA19324, HG00114, HG00159, HG00620, NA19313, NA19377, NA19380, HG01437, HG00124, HG01097, HG00108, NA19372, NA19703, HG00268, HG01066, NA18498, HG00185, NA06986, NA20344, NA19657, HG01073, HG00501, HG00672, HG00273, HG00282, HG01170, HG01069, HG00249, HG00478, HG00277, HG01080, HG01351, NA18613, HG00513, HG00524, NA20542, NA19720, HG00329, HG00512, HG00534, HG01070, NA19707, HG00246, HG00525, HG01060, NA18910, HG01383, NA19318, NA18985, HG00589, NA18606, NA18543, NA18619, NA18987, NA18582, HG00427, HG01137, NA18597, NA18567, NA19391, HG00650, NA18565, NA19116, NA18560, NA18989, HG00580, NA18544, HG00448, NA18602, NA19818, HG00608, NA18577, NA18548, NA20317, HG00123, HG00281, HG00285, NA19327, HG00656, HG01366, HG00422, NA19371, NA20543, HG00708, HG01108, NA19315, HG00693, NA18611, HG01125, NA19130, HG00251, HG00275, HG00324, HG00690, NA18549, NA18574, HG00442, HG00473, HG00137, HG01102, HG01462, NA20524, HG00626, HG00336, HG00476, HG00671, NA19087, HG00702, HG00271, HG00278, NA18519, NA07000, HG01067, HG01354
Known GenesPRDM15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668746
Frequency
Sample Size1151
Observed Gain0
Observed Loss247
Observed Complex0
Frequencyn/a


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