A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666592



Internal ID9932697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100922995..100923315hg38UCSC Ensembl
chr1:101388551..101388871hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587109, essv5872687, essv6429616, essv6210761, essv5405908, essv5716565, essv5830187, essv6085233, essv6355736, essv5994433, essv6180411, essv6155078, essv6133270, essv6522369, essv6459078, essv6431349, essv5549751, essv5754218, essv5434506, essv6077989, essv6265812, essv6503313, essv6022895, essv5405852, essv6092116, essv6293829, essv5857795, essv6211073, essv6180150, essv6535444, essv6238130, essv6461657, essv5495431, essv5559130, essv5541177, essv5836466, essv6338399, essv5996257, essv5581612, essv6192820, essv6018662, essv5896852, essv6505091, essv5630346, essv6402664, essv6347662, essv5962495, essv5745985, essv5600917, essv6440392, essv5461585, essv6593715, essv6437173, essv5977569, essv5456827, essv6407219, essv5745670, essv5610004, essv6493574, essv6093427, essv6155503, essv5764205, essv5556580, essv6486526, essv6257020, essv6045009, essv5844130, essv6096224, essv6452198, essv5510115, essv6033851, essv5883617, essv5673831, essv5556572, essv6448937, essv6251668, essv5861952, essv5994771, essv6117703, essv5680886, essv6402143, essv5856812, essv5996197, essv6573178, essv6237354, essv6575979, essv5607405, essv6353053, essv5836280, essv6445426, essv5987485, essv5516329, essv6381620, essv5631610, essv5681035, essv6353016, essv5976569, essv5452254, essv5992512, essv5973877, essv5824538, essv6384670, essv6089039, essv5425393, essv5799977, essv5587293, essv6079295, essv5624276, essv6287445, essv6208784, essv5760940, essv5633337, essv5559329, essv6593943, essv6094753, essv6336585, essv5912594, essv5863318, essv6023397, essv5573470, essv5989792, essv5942049, essv5646214, essv6162603, essv5836613, essv6358813, essv5609566, essv5672685, essv6266402, essv5669592, essv6318375, essv5612709, essv6319580, essv5598314, essv6051646, essv6050968, essv6145399, essv5963629, essv6530745, essv6160314, essv5971176, essv5966842, essv6183446, essv5704529, essv5718764, essv5976278, essv6277541, essv5932059, essv5491166, essv6383672, essv6326365, essv6041658, essv5741429, essv5471560, essv6209462, essv6065191, essv5996294, essv6041730, essv5878705, essv5751700, essv6585852, essv6253729, essv6453362, essv5893358, essv5399387, essv5967122, essv5547452, essv6383653, essv6497603, essv6436331, essv5450457, essv5404442, essv5707844, essv6555641, essv5777607, essv6476452, essv5686391, essv6166472, essv6300749, essv5404747, essv5807583, essv6061141, essv6472592, essv6097552, essv6505875, essv5396777, essv6510307, essv6123844, essv6492811, essv5612809, essv5821907, essv5591042, essv5652881, essv5416316, essv6352044, essv5497335, essv5461828, essv6541158, essv5919672, essv5645060, essv5925168, essv5474549, essv5523889, essv6176630, essv6134422, essv5941589, essv6032897, essv5907813, essv6381480, essv6052773, essv6474211, essv5436393, essv6502790
SamplesHG01060, NA12717, NA11830, NA19700, NA12842, HG01356, NA19397, NA11829, HG00242, NA19204, NA18861, NA18592, NA18508, NA10851, NA19399, NA12414, NA18980, NA11931, HG00257, HG01389, HG00315, NA12045, HG00318, NA12751, NA18545, NA19819, NA19393, NA12004, NA18504, NA12058, HG00737, HG00177, HG01461, NA19098, NA18510, NA12750, NA12155, NA07357, HG01140, NA12413, HG00271, NA12813, HG00663, NA18967, NA07346, NA19374, NA18563, NA19396, NA19373, NA19171, HG01350, NA18944, NA19201, HG01351, HG01177, NA19678, HG01488, HG00448, NA19119, NA18635, NA12891, HG00330, NA18547, NA19131, NA18942, NA18618, HG00736, NA18916, NA07048, HG01354, NA19457, NA19313, NA18571, NA12287, NA19138, NA18498, NA20513, NA19130, NA20541, NA12761, HG00281, NA20278, HG00683, HG00148, NA18874, HG00106, NA12156, NA06984, NA19137, NA11932, NA19371, NA11994, NA19207, NA19385, NA19159, NA19725, NA19239, NA20342, NA19209, NA12828, NA18975, NA18908, HG00323, NA19200, HG00264, HG00464, HG01124, NA11831, NA10847, HG00313, HG00133, NA18951, NA18605, NA19210, HG00731, NA20800, NA19657, HG00176, HG00282, HG00245, NA12003, NA19462, NA19347, NA19152, NA20809, NA18956, HG01095, HG01515, NA19391, NA19327, NA18516, NA18976, NA19776, NA18981, HG00692, HG00740, NA18537, NA19654, NA18566, NA18573, HG00651, NA19449, HG00690, NA18499, NA18856, NA12892, NA18532, NA18853, NA18553, NA19099, NA18555, HG00276, HG00463, NA19469, NA19160, HG00126, NA18634, HG01107, HG01075, NA18974, NA18546, NA18608, HG00611, NA18632, NA18542, NA12716, NA18909, NA18535, NA19108, NA18543, NA19712, HG00353, NA12272, NA19380, NA19144, NA20778, NA19470, NA19428, NA20544, HG01137, HG00116, NA18943, HG01108, NA19360, HG00256, NA12763, HG00339, NA18501, HG00111, NA06994, NA18971, NA12749, HG00656, NA19716, NA18609, HG00310, NA19102, NA18873, NA18972, NA18552, HG00372, HG00274, HG00252, NA18505, NA19129, HG01082, NA18968, HG00345, NA12006, NA18511, HG01061, NA19153, NA18562
Known GenesSLC30A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666592
Frequency
Sample Size1151
Observed Gain0
Observed Loss213
Observed Complex0
Frequencyn/a


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