A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669529



Internal ID9935634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210533248..210533348hg38UCSC Ensembl
chr1:210706592..210706692hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6540006, essv5683695, essv6372630, essv6528734, essv6252509, essv5796760, essv5506284, essv5619277, essv6220765, essv5489651, essv5472768, essv5881930, essv5991469, essv6312919, essv5656281, essv6568088, essv5709570, essv6507820, essv5621151, essv6338754, essv6578326, essv5519115, essv6477830, essv6147551, essv6153572, essv6595906, essv5808888, essv5786548, essv6565700, essv6521369, essv5789803, essv6417565, essv6178038, essv5824254, essv5938307, essv5825881, essv6190299, essv6426831, essv5935298, essv5995920, essv5407834, essv5453716, essv6592319, essv5814788, essv6175865, essv5571442, essv5818196, essv5795961, essv5623473, essv5570487, essv6502648, essv5768465, essv5615137, essv6214260, essv5970529, essv5445017, essv6308651, essv6525834, essv5818416, essv5593824, essv5488240, essv5402296, essv5900661, essv6103990, essv5912742, essv6218615, essv6548751, essv6441586, essv5895243, essv5474129, essv6477545, essv5779635, essv6526904, essv6443072, essv6068703, essv5738597, essv5413585, essv5725073, essv5775747, essv6180040, essv6302572, essv5877956, essv6387878, essv5946188, essv5698276, essv5774404, essv6383153, essv5421265, essv5949478, essv6174172, essv6286319, essv6213566, essv5446280, essv5887502, essv6578538, essv5622022, essv5726473, essv6041862, essv6023469, essv5474680, essv5904799, essv5555100, essv6317339, essv6294092, essv6388123, essv6348869, essv5522887, essv5966274, essv6048822, essv5620849, essv5776519, essv5460354, essv6300478, essv5796627, essv5927794, essv5605229, essv6350558, essv5872367, essv5511898, essv6051567, essv6238953, essv6069736, essv5873937, essv5442296, essv5418503, essv5978483, essv6003030, essv6136823, essv6014680, essv6374973, essv6015245, essv6514952, essv5853273, essv5653810, essv6012201, essv6194455, essv5745110, essv5514353, essv6058724, essv6188108, essv6379869, essv6186428, essv5578512, essv6358599, essv5776176, essv6075543, essv5418332, essv5845596, essv6465375, essv5825804, essv5990746, essv6556394, essv6541696, essv6467246, essv5988609, essv6302992, essv5512522, essv6402733, essv6429537, essv5678317, essv6191898, essv5995328, essv5885692, essv5758207, essv6027016, essv6557437, essv5940904, essv5738388, essv6332701, essv6059115, essv5737703, essv5399159
SamplesHG00626, NA19394, HG00650, HG00442, HG01521, HG01356, NA20543, NA18947, NA12286, HG01079, NA18561, NA12843, NA11933, HG00257, HG00315, NA18603, NA12751, NA18530, HG00261, NA12750, NA18602, HG00327, HG00271, NA19396, NA19381, NA19379, NA18940, HG01366, HG00272, NA19382, NA18489, HG01351, HG00448, NA18558, NA18547, NA18916, NA07347, HG00346, NA18571, HG01083, NA19138, HG00369, HG00334, NA20513, NA18611, NA19404, NA12761, NA11930, HG00281, HG00139, NA12282, HG00277, HG01069, HG01067, NA19383, HG00335, HG00236, NA11932, HG00232, NA19371, NA19385, HG00422, NA12889, HG00309, NA18557, HG01048, HG00326, NA20127, HG00323, HG00530, HG00419, HG00253, NA18638, HG00260, HG00313, HG00137, HG01136, NA18613, HG00443, HG00268, HG00282, HG01384, HG00328, HG00653, HG00657, NA19391, HG00475, HG00556, HG00263, HG00275, NA18579, NA18572, NA18948, NA18534, HG00692, NA18537, HG01047, HG00324, HG00284, HG01073, HG00273, NA19774, HG00531, NA12829, HG00331, NA12249, HG01383, NA18532, HG00321, HG00140, NA12827, HG01334, HG00276, NA12144, NA18523, HG00463, HG00246, NA19395, NA18570, NA18945, NA18576, NA18546, NA20522, NA18542, NA12716, HG00254, NA18909, HG00336, HG00285, NA18559, NA18517, HG00353, HG00375, HG00136, HG00278, NA07051, HG00473, HG00237, NA19679, NA19428, HG01113, HG00319, NA19360, HG00256, NA12763, HG00418, HG00339, HG00125, NA18501, HG00111, HG00513, HG00478, NA19093, NA18609, HG00310, HG00186, HG00698, HG00280, NA20528, NA18552, HG00274, HG00252, HG01377, NA20502, NA18989, HG01378, NA18612, NA18549, HG01437, NA18562, NA18577, NA18620
Known GenesHHAT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669529
Frequency
Sample Size1151
Observed Gain0
Observed Loss172
Observed Complex0
Frequencyn/a


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