A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673553



Internal ID9939658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50312159..50317065hg38UCSC Ensembl
Outerchr19:50311488..50317735hg38UCSC Ensembl
Innerchr19:50815416..50820322hg19UCSC Ensembl
Outerchr19:50814745..50820992hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6236028, essv6520994, essv5869499, essv5864501, essv6404799, essv6517120, essv6493310, essv5610974, essv5889020, essv6095034, essv6052854, essv5975674, essv6315170, essv6001614, essv6585308, essv5481910, essv5485954, essv5609019, essv6412509, essv5685043, essv5399589, essv5569531, essv6220534, essv6176200, essv5464043, essv6451627, essv5996700, essv5511933, essv6140968, essv5400581, essv5800018, essv6115522, essv6231910, essv5792814, essv5569664, essv5635425, essv6286420, essv6218741, essv5838824, essv5566678, essv6489630, essv5976277, essv5930321, essv5620528, essv5403276, essv6350974, essv6310784, essv5573008, essv5665538, essv6471906, essv5771762, essv6176645, essv5847298, essv6033070, essv5858272, essv5439389, essv6503213, essv5730836, essv6477450, essv6189327, essv5811091, essv5757847, essv5940884, essv6050095, essv5453284, essv5776865, essv6371696, essv5636912, essv5595985, essv6557151, essv5827440, essv5551310, essv5899399, essv5741428, essv6302756, essv6053441, essv5734367, essv5917391, essv5749074, essv6020619, essv5614030, essv6021365, essv6187234, essv6073138, essv5611410, essv5602064, essv6164455, essv6240085, essv6235676, essv6348079, essv5677661, essv5558233, essv6082042, essv6503211, essv6338300, essv6393322, essv6067746, essv5479471, essv5963522, essv6320429, essv5597540, essv5572677, essv6552542, essv6454202, essv6500426, essv6317108, essv5558923, essv5772525, essv5629606, essv5677244, essv6030789, essv6508035, essv6426111, essv6306471, essv6479260, essv6278823, essv6176872, essv6314881, essv5814495, essv5857260, essv5772572, essv6189816, essv6419065, essv5919268, essv6475486, essv6360711, essv6323471, essv6299080, essv6110653, essv6114686, essv5685723, essv5403824, essv5413169, essv5582579, essv5633025, essv6589749, essv6357888, essv5591939, essv5940871, essv5503218, essv6064211, essv6110843, essv5510818, essv5426524, essv5967039, essv6434620, essv5683701, essv6039851, essv6368018, essv6126233, essv6321276, essv6166478, essv5640118, essv5664407, essv6197147, essv6576746, essv6532775, essv5611312, essv5960741, essv5986165, essv5631673, essv5456885, essv5970430, essv5651365, essv6494041, essv5996498, essv5482340, essv6101154, essv5531751, essv6294513, essv5698788, essv5612108, essv6172499, essv6518325, essv6116055, essv5920070, essv5448610, essv5962446, essv6386843, essv6282940, essv6415695, essv5933418, essv5950097, essv5552693, essv5585302, essv5515795, essv6089188, essv6323027, essv6344531, essv6586508, essv6436860, essv6279374, essv6009997, essv6427902, essv6090838, essv5991156, essv5871246, essv6279360, essv6570153, essv6285001, essv5808434, essv5616915, essv5632100, essv6154611, essv6540807, essv6072953, essv5811355, essv6232825, essv6000841, essv6019193, essv5841540, essv5769178, essv6394969, essv6402118, essv6582426, essv6577809, essv6595182, essv5862931, essv5733425, essv6028147, essv5656635, essv6520139, essv5504605, essv5922937, essv5737405, essv5905972, essv6558196, essv6450077, essv6482333, essv5983160, essv5586955, essv5471682, essv6308549, essv6485915, essv5673910, essv6097586, essv6143001, essv5725829, essv5576217, essv6169380, essv5885013, essv5872883, essv5493057, essv6429373, essv5977724, essv6558430, essv5966073, essv6247027, essv6430888, essv6255736, essv5403975, essv6055179, essv6340975, essv6364651, essv6204337, essv5503990, essv5427986, essv6004735, essv5699855, essv5813817, essv5916555, essv5595186, essv6098441, essv5582150, essv5955808, essv5618533, essv6395191, essv5780287, essv5502928, essv6489715, essv6171896, essv5973801, essv5470676, essv5426801, essv6227136, essv6176050, essv6099865, essv6287557, essv6025563, essv5649632, essv6436968, essv5587882, essv6397567, essv6061243, essv5705759, essv6430008, essv5840149, essv5860709, essv5582604, essv5450271, essv6532115, essv6418478, essv5737444, essv6462868, essv5448161, essv6070951, essv5609117, essv5855464, essv5523380, essv5427651, essv5596036, essv5973034, essv5886996, essv5872685, essv5597892, essv6470003, essv6345809, essv6043625, essv5758260, essv6210789, essv6137233, essv6185249, essv5572105, essv5493771, essv6114754, essv6384980, essv6295526, essv6423531, essv5970654, essv5575233
SamplesNA19394, HG00189, HG00650, HG00542, HG00442, HG00143, HG01462, HG00608, HG00671, NA19399, HG00257, HG00315, HG00244, NA19350, HG00181, NA19359, NA19355, NA19377, HG00115, HG00449, HG01461, HG00654, NA19443, HG00261, HG00693, HG00337, HG00271, HG00663, NA19446, HG00138, NA19373, HG01350, NA19379, HG00589, HG00272, HG00122, HG01351, HG01492, NA19457, HG01365, HG00334, HG00185, NA19384, HG00537, HG00243, HG00158, HG00512, HG00281, HG00139, HG00335, HG00148, HG00156, HG00325, HG00232, NA19372, HG00534, HG00705, HG00160, HG00326, HG00323, HG01550, HG00253, HG01124, HG00137, HG00154, HG00443, HG00268, HG00266, HG00282, NA19403, HG00557, HG00245, HG00657, HG00368, NA19455, HG00556, HG00583, HG00344, HG01498, HG00263, HG00275, HG01149, HG00692, HG00324, HG00284, NA19461, HG00651, HG00250, HG00690, HG00404, HG00531, HG00479, HG00331, HG00684, NA19453, HG00140, HG01497, HG01334, HG00152, HG00146, NA19452, HG00704, HG00463, NA19469, HG00246, NA19395, HG00126, HG01148, NA19375, HG00258, HG00611, HG00155, NA19440, HG00254, NA19390, HG00336, HG00625, NA19434, HG00353, HG00580, NA19444, HG01357, HG01375, HG00473, HG00237, NA19470, NA19428, NA19311, HG00116, NA19360, HG00662, HG00418, HG01489, HG01342, HG00620, HG00339, HG00614, HG00513, HG00478, HG00259, HG00342, NA19468, NA19474, HG00310, HG00112, HG00280, HG00377, HG00274, HG00595, NA19430, NA19312, HG00628, HG00171, NA19463, NA19429, NA19346, HG01437, HG00581, NA19431, HG00593, HG00626, HG00403, HG00114, HG01441, HG00592, HG01356, HG00536, HG00231, NA19397, HG00249, NA19466, HG00361, HG01359, HG00524, HG00187, HG00100, HG01389, HG01374, HG00367, HG00318, HG01465, HG00699, NA19393, HG00177, HG00150, HG01140, HG00327, NA19374, NA19396, NA19381, HG01366, HG00251, HG00501, NA19382, NA19448, HG01488, HG00702, HG00689, HG00448, HG00330, HG00634, HG00610, HG00346, HG01354, NA19313, HG00247, HG00369, HG00590, NA19404, HG01134, HG00277, HG00120, NA19383, HG00683, HG00106, HG00236, HG00262, NA19371, HG00422, NA19471, HG01440, HG00309, HG00182, HG00427, HG00338, HG00159, NA19445, HG00178, HG00530, HG00419, NA19451, HG00264, HG00464, HG00108, HG00260, HG01353, HG00543, HG00313, HG00133, HG01136, HG00629, NA19437, HG01360, HG00183, HG00176, HG00596, HG01384, HG00328, HG00428, NA19462, NA19347, HG00653, HG00577, HG00701, NA19391, HG00475, HG00436, HG00320, HG00584, HG00533, HG00500, HG00619, HG00708, HG00635, HG01390, HG00273, NA19449, HG00373, HG01383, HG00613, HG00525, HG00321, HG00157, NA19338, HG00276, NA19436, NA19401, HG00476, HG00124, HG00119, HG00285, HG00366, NA19473, HG00375, HG00357, HG00136, NA19435, HG00278, NA19380, NA19334, HG00607, NA19439, NA19467, HG00319, HG00256, HG00269, HG00125, NA19376, NA19398, HG00707, HG00672, HG00111, HG00578, HG01491, NA19438, NA19472, HG00421, HG00329, HG00656, HG00123, HG00186, HG00698, HG00131, HG00343, HG00372, HG00252, HG00472, HG01378, HG00345, HG00437
Known GenesKCNC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673553
Frequency
Sample Size1151
Observed Gain0
Observed Loss320
Observed Complex0
Frequencyn/a


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