A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661504



Internal ID9927609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1950217..1951623hg38UCSC Ensembl
Outerchr19:1949596..1952093hg38UCSC Ensembl
Innerchr19:1950216..1951622hg19UCSC Ensembl
Outerchr19:1949595..1952092hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6198812, essv6130135, essv5845268, essv5658508, essv6146917, essv6581962, essv6119948, essv5526722, essv5795267, essv5777474, essv6247834, essv6144335, essv5640328, essv6000286, essv5447144, essv6434158, essv5672846, essv6481700, essv6195574, essv5536596, essv6577058, essv5943185, essv6480246, essv5580067, essv5581688, essv6597985, essv5987981, essv6144625, essv5641089, essv5626235, essv6529918, essv5522437, essv5998901, essv6138229, essv6079755, essv6449753, essv5697244, essv6409370, essv6393994, essv6305362, essv6241253, essv5447328, essv5861341, essv6352848, essv6154084, essv5973084, essv5610217, essv6395949, essv5990012, essv5861412, essv6371004, essv6113066, essv5874781, essv6037861, essv5493182, essv6408401, essv5920822, essv5899139, essv6247402, essv5583099, essv5630957, essv5395749, essv5905941, essv6216637, essv6448012, essv6390089, essv6350527, essv6453511, essv5601510, essv5506973, essv6536724, essv6170258, essv6406934, essv6484039, essv6479144, essv5571115, essv6003036, essv6451473, essv6450771, essv5733038, essv5728244, essv5448829, essv6193559, essv5548855, essv6579277, essv6360785, essv6446580, essv5746642, essv5405285, essv6180920, essv5519482, essv6225648, essv5654258, essv5897570, essv5465360, essv5618837, essv5820073, essv5763604, essv5610842, essv5514139, essv6152642, essv5917260, essv5927075, essv6483274, essv5602226, essv6040234, essv5571648, essv6103948, essv5813811, essv5531418, essv6427153, essv5909625, essv5973786, essv5865071, essv5910928, essv6203068, essv5972571, essv6522597, essv6301678, essv5666685, essv6316613, essv6226054, essv5822136, essv6031609, essv5917889, essv5904757, essv5479890, essv5616468, essv5836328, essv5689084, essv6534040, essv6393951, essv5777163, essv6452831, essv5448067, essv6107289, essv5828906, essv6588218, essv6295394, essv6153915, essv5868870, essv5608417, essv5945783, essv5937236, essv5498023, essv6363735, essv6148833, essv6056735, essv5693909, essv5400675, essv5407139, essv5465336, essv6549033, essv6286594, essv6219393, essv6472875, essv6241386, essv6105194, essv6128634, essv5521171, essv6498469, essv6012043, essv6180377, essv5486331, essv5778976, essv6275267, essv5418983, essv6484653, essv6029141, essv6558281, essv5795251, essv6210099, essv6007304, essv6012269, essv6152324, essv6029181, essv5486286, essv6514153, essv6419967, essv6086338, essv6291297, essv6489449, essv5627123, essv5804187, essv6589291, essv5979312, essv5791863, essv6003859, essv6264310, essv5783889, essv6027021, essv5959092, essv6363942, essv5939666, essv5834417, essv6464534, essv5487461, essv5503532, essv6268549, essv5983954, essv5813481, essv5873708, essv6445144, essv6342601, essv6248286, essv5866175, essv5705788, essv5875765, essv5949364, essv6355697, essv6478527, essv6393421, essv5916291, essv5927065, essv6584944, essv6114465, essv5399942, essv5767842, essv5955538, essv5561650, essv6084840, essv6523011, essv5515567, essv6494540, essv6437923, essv5620821, essv5596469, essv6266900, essv5901017, essv5584248, essv6334244, essv6071691, essv6452951, essv6213033, essv5610401, essv6026512, essv5788761, essv6511857, essv6079249, essv5593249, essv5672498, essv6098676, essv5899531, essv6416160, essv5767979, essv5833425, essv5876238, essv6426266, essv6221486, essv5404503, essv5465307, essv5685423, essv5972382, essv6015150, essv5716949, essv5530194, essv6407469, essv5751936, essv6188890, essv5724615, essv6573652, essv5891790, essv6289223, essv6214617, essv6189492, essv5932234
SamplesNA19394, HG00650, HG00542, NA19703, HG00608, NA19909, HG00671, NA19066, NA18861, NA18565, NA18999, NA20294, NA19684, NA19377, NA18959, NA18616, HG00449, HG01461, HG00654, NA19443, NA18633, NA19067, HG00693, NA18627, NA19107, HG00663, NA19446, NA18563, NA19373, NA19171, HG01350, NA19379, NA18940, HG00589, NA19319, NA19315, HG01351, NA18558, NA18547, NA19457, HG01365, NA19904, NA19130, NA19079, NA18949, HG00512, NA20278, NA18868, NA19372, HG00534, NA19235, HG00705, NA18990, NA19985, NA18867, NA19789, NA18539, NA19921, NA19908, NA19070, NA19056, HG00557, HG00657, NA19717, HG00583, NA19081, HG01498, NA18871, NA18572, NA18948, NA18534, NA18548, NA18907, NA18537, NA19461, NA18626, HG00404, HG00479, NA19453, NA18553, NA19099, NA18555, NA19682, NA18523, NA19469, NA19625, NA18858, NA18593, NA18974, NA19375, NA19003, HG00611, NA19652, NA19440, NA19147, NA18517, HG00625, NA19434, NA19747, NA19072, NA19444, HG01357, NA19679, NA19470, NA19311, NA19083, NA19360, HG00662, HG00418, NA18615, HG01489, HG00620, HG00513, HG00478, NA19474, NA19093, NA18636, NA20289, NA19102, NA19116, NA19080, NA19900, NA18983, HG00595, NA19430, NA19312, HG00628, NA18623, NA19429, NA19074, NA19431, NA18620, HG00593, HG00626, HG00403, NA19700, HG00592, HG01356, HG00536, NA19397, NA18924, NA19466, HG00524, NA19914, NA19332, NA19704, NA18599, HG01374, NA18917, HG00699, NA19777, NA20346, NA19190, HG01140, NA19374, NA19068, NA19746, NA19381, NA19005, NA18550, HG01366, HG00501, NA19762, NA19448, NA18595, HG00448, NA18635, NA19916, HG00634, HG00610, NA19771, NA19313, NA19138, NA19681, NA18611, HG00683, NA19917, NA19719, NA18560, NA19731, NA19075, NA19317, HG00427, NA19209, NA19456, NA18908, HG00530, NA19451, NA19200, HG00464, HG00543, HG01136, NA18544, HG00560, NA18613, HG00629, NA19657, NA19437, NA19082, HG00596, HG00428, NA19347, NA19152, HG00653, HG00577, HG00701, NA19391, HG00475, NA19236, NA18516, HG00436, NA19982, HG00584, NA18637, HG00500, NA19788, NA18976, HG00619, HG00708, HG01390, NA18566, NA19000, NA19449, NA19655, HG01383, HG00525, NA19257, NA19756, NA18536, NA18634, NA18945, NA19436, HG00476, NA18542, NA18535, NA18543, NA18559, NA19732, NA19435, NA19144, HG00607, NA19439, NA19786, NA19467, NA19085, NA19376, NA19398, HG00707, NA19438, NA19472, NA19060, HG00421, NA19713, HG00698, NA19213, NA18972, HG00472, NA18505, HG01378, NA20322, NA18511, NA18549, NA18622, HG00437, NA18562, NA18965
Known GenesCSNK1G2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661504
Frequency
Sample Size1151
Observed Gain0
Observed Loss266
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer