A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656851



Internal ID9576270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8634167..8634283hg38UCSC Ensembl
chr18:8634165..8634281hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5794002, essv6200997, essv6219355, essv6588052, essv5777489, essv6010854, essv6463484, essv6149545, essv5405230, essv6592882, essv5768014, essv5946334, essv6094770, essv6022103, essv5752220, essv5739654, essv5779039, essv6072773, essv5453875, essv5618847, essv5909924, essv5939496, essv6172294, essv6273475, essv5946282, essv5597917, essv5730024, essv6181759, essv5453261, essv6134567, essv6545023, essv5439511, essv6484089, essv5515717, essv5823756, essv6410735, essv6083754, essv6092386, essv6274458, essv6472259, essv6507821, essv6018070, essv6066299, essv5892890, essv6276529, essv6383620, essv6421094, essv5662535, essv5843325, essv5927273, essv6495853, essv6208936, essv6318914, essv6128026, essv6328364, essv6232014, essv5707974, essv5710373, essv5441368, essv5932909, essv5948840, essv6290216, essv5445318, essv6185541, essv5508228, essv5596706, essv5921583, essv6239829, essv6465831, essv5926209, essv5516789, essv6433989, essv6421893, essv6272028, essv6165782, essv6290211, essv5993505, essv6126139, essv6107791, essv6081294, essv6217096, essv6378518, essv5935640, essv6328842, essv6383335, essv5818622, essv6406286, essv5637572, essv5981972, essv5638196, essv5757444, essv5925276, essv6136287, essv5439647, essv6029762, essv6196592, essv6009933, essv6283734, essv5796511, essv5453837, essv5627709, essv6185778, essv5641725, essv5642440, essv5938939, essv6555327, essv5954547, essv6187831, essv6507631, essv6468243, essv5910514, essv5520007, essv5557342, essv5905021, essv6273288, essv6570262, essv6577685, essv5771194, essv5800254, essv6157043, essv5812031, essv6146298, essv5554314, essv6566542, essv6546301, essv6589149, essv5452653, essv6081863, essv6294360, essv6474642, essv5936521, essv5716311, essv6526786, essv5397364, essv5807853, essv6408378, essv5767851, essv5711962, essv6335479, essv5986506, essv6005897, essv6121488, essv6416085, essv5438373, essv5987472, essv6127502, essv5632416, essv6561362
SamplesNA18621, HG00309, HG00734, HG00252, HG00318, NA18605, HG00536, HG00257, NA18595, HG00619, NA18534, HG00344, NA18530, HG00418, HG01072, HG01052, NA18561, HG00328, NA19114, HG00705, HG00437, HG00500, HG01173, HG01083, NA18612, NA20510, HG00274, HG00464, NA19783, HG00449, HG00310, NA18550, NA18570, HG00261, NA18545, NA18603, HG00463, HG00657, HG00614, HG01051, HG01082, HG00428, HG00375, NA18573, NA18608, NA18542, HG01350, NA18546, HG00698, HG00111, HG00581, NA07051, HG00651, HG00557, HG01101, HG00319, NA19084, HG00699, NA18557, NA18873, NA18943, HG00353, HG00479, NA19654, HG00247, HG00256, HG00543, HG00154, NA18559, NA19463, NA12843, NA18624, HG00583, NA18566, NA18622, NA18563, NA07357, NA18623, HG00692, NA18636, NA18592, NA18638, HG00533, HG00419, NA18547, NA18637, HG00254, HG00276, HG00284, HG00237, HG00343, HG00584, HG00662, HG00620, HG00108, HG00653, NA18572, HG00268, HG01066, HG00325, HG01455, HG00501, HG00672, HG00282, HG00249, HG00478, NA18564, NA18942, HG00116, HG00103, NA18613, HG00513, HG00512, HG00534, HG01070, NA18562, NA18606, NA18543, NA18582, HG00427, NA18552, HG00650, HG00138, HG00663, NA18602, HG00654, NA18533, HG01366, NA18571, HG00693, NA18611, HG00251, HG01177, HG00320, HG00324, NA18532, NA18549, HG00442, HG01374, HG00473, HG01522, HG00684, HG00702, HG00704, NA19750, HG00271, HG00136, NA07000
Known GenesRAB12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656851
Frequency
Sample Size1151
Observed Gain0
Observed Loss148
Observed Complex0
Frequencyn/a


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