A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659556



Internal ID9578975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52255853..52258369hg38UCSC Ensembl
chr10:54015613..54018129hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e199
Supporting Variantsessv6547805, essv6505127, essv6186220, essv6058158, essv5960538, essv5714698, essv5822900, essv6368443, essv6538660, essv5588386, essv5792270, essv6021667, essv6356789, essv5852743, essv6515237, essv6459751, essv5915842, essv6104235, essv6152654, essv5937020, essv6558513, essv5418869, essv5498710, essv5637868, essv6559521, essv5569943, essv6034625, essv6222301, essv5795526, essv5482649, essv6471391, essv5546191, essv6257725, essv5870109, essv5860556, essv6283367, essv6006325, essv6469296, essv5744635, essv5718658, essv5779473, essv5621721, essv5983112, essv6403608, essv6359613, essv6170053, essv6187648, essv5814809, essv5563792, essv5830093, essv5903349, essv5845655, essv6486924, essv5738784, essv6136143, essv5984397, essv5943890, essv5674100, essv5457177, essv5811182, essv6127628, essv6519250, essv5644064, essv5958816, essv5929876, essv5618681, essv5434519, essv6358060, essv6037865, essv6041010, essv6294870, essv6258694, essv6217776, essv5484760, essv6391294, essv6305764, essv6106827, essv6575216, essv6253683, essv5736725, essv6057719, essv5574095, essv5620479, essv5501251, essv5467052, essv5905119, essv5683380, essv6290616, essv6098017, essv5858512, essv5683075, essv6251856, essv5898757, essv5562081, essv5781787, essv5511679, essv6009642, essv6554500, essv6199228, essv6532869, essv5992828, essv5646271, essv6160333, essv5640823, essv5625049, essv5617908, essv6324502, essv5888453, essv5422792, essv6435336, essv6517424, essv5815646, essv6056700, essv6122199, essv6055326, essv5607671, essv6143342, essv5921288, essv5772121, essv6374134, essv5561622, essv6510628, essv5923868, essv5593686, essv5789784, essv5466477, essv6389980, essv6522092, essv6571661, essv5885852, essv6545966, essv6180667, essv5602342, essv5414169, essv5719669, essv5558448, essv5530885, essv6159934, essv5640350, essv5946034, essv5742501, essv5670405, essv6526301, essv5654360, essv6254650, essv6093516, essv6007149, essv6018236, essv5694374, essv5483747, essv6505264, essv5780952, essv6586810, essv6296279, essv5952311, essv5899765, essv6531694, essv5457699, essv6508941, essv5867155, essv5717510, essv6112308, essv6067373, essv6295497, essv6187698, essv6540912, essv5616483, essv5499360, essv5752680, essv5782613, essv5688205, essv5674277, essv6188310, essv6578436, essv6461486, essv5599508, essv6421890, essv5881883, essv5403579, essv6402113, essv5755694, essv6213405, essv6405759, essv6479177, essv6520458, essv6281812, essv6037449, essv6144179, essv5679793, essv5730380, essv5477962, essv6117782, essv6393797, essv5758894, essv5671745, essv6421165, essv5795370, essv5430152, essv6180244, essv5945256, essv6574036, essv5948389, essv5723471, essv5669515, essv5659294, essv5862551, essv5700777, essv5411137, essv5862534, essv5855538, essv5635859, essv6367444, essv6269268, essv6168107, essv5703505, essv6386511, essv6043396, essv5770965, essv5741459, essv5892927, essv5608545, essv5436218, essv5462016, essv5526052, essv5944891, essv5492275, essv6211720, essv5888599, essv5830041, essv5720002, essv5804666, essv5520105, essv5902689, essv5636408, essv5530119, essv6224917, essv5823234
SamplesHG00189, HG01173, HG00143, NA19703, HG01462, NA19664, HG00257, HG00315, HG00233, HG00181, NA18530, HG00737, HG00115, HG00449, HG01461, HG00693, HG00337, NA20814, HG01350, HG00272, HG01351, HG01083, HG00334, HG00185, HG00537, HG00311, HG00243, NA19079, HG00158, HG00139, HG01069, NA19720, HG00335, HG00148, NA18868, NA19235, HG00705, NA19722, HG00160, HG01198, HG01048, HG00323, HG00253, NA19789, NA20753, HG01124, HG00137, HG00443, HG00268, HG00266, HG00282, NA19070, HG00732, HG01095, HG00368, HG00556, HG00583, HG00275, HG01149, HG00740, NA19654, HG01102, HG00324, HG00284, HG00250, HG00479, NA20581, HG01101, HG00140, HG01334, NA19761, HG00152, HG00126, NA19625, HG01107, HG01148, NA19375, NA19003, HG00258, NA19729, HG00611, NA19652, HG00254, HG00336, NA18628, NA12272, HG01357, HG01174, HG01375, NA19679, HG01137, HG00116, NA19783, HG00662, HG00418, NA18615, HG01489, HG00620, HG00339, HG00513, NA19785, NA18631, HG00259, HG00267, HG00310, HG00280, HG00274, HG00595, HG01125, HG00628, HG00171, NA19463, NA19065, HG01437, HG00581, NA19676, HG00626, HG01060, HG01441, NA19648, HG01356, NA19397, HG00361, HG00187, HG00100, NA19704, HG01389, HG01374, HG00306, NA18603, HG01465, HG00699, HG01456, HG00566, NA18606, HG00177, HG00150, NA19746, NA19396, NA19660, HG01366, HG00251, NA19762, HG00702, HG00448, HG00173, NA19723, HG00330, HG00634, HG00736, HG00610, HG01354, HG00247, NA19054, NA19681, HG01455, NA19651, HG00120, HG00236, HG01072, NA19371, NA19731, HG01176, HG00182, NA19445, HG00530, HG00464, NA20818, NA19007, HG01353, HG00543, HG00313, HG01183, HG01136, HG00188, HG00149, HG00629, NA19657, HG01360, HG00176, NA19082, HG01187, NA19707, HG00596, HG01384, HG00328, HG00653, NA19391, HG00436, HG00533, NA18637, NA19788, HG00619, NA19776, HG00708, HG00635, NA19000, HG00373, HG01383, HG00117, HG00321, HG00276, NA19756, NA19675, NA18546, NA19685, HG00476, HG00124, HG00119, NA18559, NA19749, HG00375, HG01253, HG00136, HG00278, NA19773, HG01494, HG00256, NA19759, HG00111, HG00578, HG01491, HG00329, HG00656, HG01254, HG00186, HG00343, HG01251, NA19661, HG01378, NA19755, HG01082, NA19758, HG01112, HG01061, HG00437, NA20509
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659556
Frequency
Sample Size1151
Observed Gain0
Observed Loss237
Observed Complex0
Frequencyn/a


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