A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669825



Internal ID9589244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38113449..38113584hg38UCSC Ensembl
chr3:38154940..38155075hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5621828, essv6361556, essv5837986, essv5961949, essv6318366, essv6180041, essv5711590, essv5814789, essv6456610, essv6581878, essv6428742, essv6596575, essv6365392, essv6281527, essv6596251, essv5560540, essv5961985, essv5602255, essv5641245, essv5833380, essv6128699, essv5451024, essv5788802, essv5668124, essv6425852, essv6239289, essv6186469, essv5669153, essv5774168, essv5513025, essv5777811, essv6228610, essv6039107, essv5770084, essv6514394, essv5785259, essv5952400, essv6585899, essv5403796, essv6060623, essv5873053, essv5826199, essv6082128, essv5395886, essv5543440, essv5516325, essv6278669, essv5813033, essv6177979, essv5654937, essv5714666, essv5528565, essv6427029, essv6288818, essv6346137, essv6585758, essv5637881, essv6269687, essv5420733, essv5514239, essv5729820, essv5924220, essv5990781, essv6176422, essv6252923, essv5692457, essv6381538, essv6215044, essv5407453, essv5896187, essv6360347, essv6001347, essv5999032, essv5743546, essv5624057, essv5959114, essv6586906, essv5439850, essv6188598, essv5513294, essv5563835, essv6273868, essv6472855, essv5555044, essv5764132, essv6276848, essv6462368, essv5491380, essv6307231, essv5628481, essv5561350, essv6267361, essv5897063, essv5804125, essv6100341, essv6279250, essv6369188, essv6399453, essv6132167, essv5926945, essv5419822, essv5423528, essv5590032, essv5875041, essv6224237, essv5835323, essv6056497, essv6108998, essv5877819, essv5564540, essv5985220, essv6369571, essv5826370, essv6284980, essv5825422, essv5632290, essv5621037, essv5675520, essv5943013, essv5703133, essv6006035, essv6129859, essv5650349, essv5659631, essv6373984, essv6390437, essv6232344, essv5880519, essv5756778, essv5429286, essv5900632, essv5758271, essv5697443, essv6580755, essv5410834, essv5419917, essv5552794, essv6098638, essv5534089, essv5995109, essv6029175, essv5847273, essv6417060, essv6112219, essv5777225, essv5761504, essv5520570, essv6447741, essv6111057, essv5644551, essv6410270, essv6542189, essv5620987, essv5998927
SamplesHG00626, HG01441, HG00650, HG00592, NA20529, NA19703, NA18561, HG01188, NA18599, HG00257, HG01374, HG01066, HG00315, NA18999, HG00367, HG00318, HG00103, NA12004, HG00566, NA18530, NA18606, NA20346, HG00449, NA20517, HG01461, HG00261, HG00693, HG00663, NA18563, HG00138, HG00127, HG01350, NA20796, HG01177, NA19649, NA19062, NA07048, NA18582, NA20540, NA19771, NA20287, HG00185, NA19079, HG00590, HG00281, HG00139, HG00277, HG01069, NA20278, HG00683, HG00335, HG01170, HG00236, HG00156, NA18977, HG01495, HG00325, HG01072, NA19075, NA18617, HG00422, HG00705, HG00309, HG00427, HG00637, NA18557, HG01133, HG00323, HG00419, HG00464, HG00108, HG00154, NA18605, NA18613, HG00443, HG00268, HG00596, HG00328, HG00653, HG00577, HG01095, HG00701, NA19663, HG00436, HG00556, HG00584, HG00533, HG00583, HG00344, HG01498, NA19788, NA20344, HG00692, NA18566, HG00284, HG01073, NA18573, NA11919, HG00651, HG00250, HG00331, HG00525, HG00321, HG01334, HG00276, NA19682, HG00463, NA18536, HG00246, NA18634, NA18576, NA18632, NA18542, NA18535, NA18543, NA19147, NA18564, HG00580, NA07051, HG00098, HG01375, HG00473, NA19679, HG00319, NA19083, HG01108, HG00256, HG00662, NA18610, NA19398, HG00614, HG00111, NA19785, HG01491, NA19779, NA18987, NA20510, NA18636, HG00310, NA18552, NA18983, HG00252, HG00147, HG01378, NA19758, NA18624, HG00345, NA12154, NA18612, NA18549, NA19074, NA18622, HG00437, NA18620
Known GenesDLEC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669825
Frequency
Sample Size1151
Observed Gain0
Observed Loss154
Observed Complex0
Frequencyn/a


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