A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675445



Internal ID9941550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71068635..71068839hg38UCSC Ensembl
chr14:71535352..71535556hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5626798, essv6028643, essv5560874, essv6583059, essv5731230, essv5620241, essv5801056, essv6186106, essv5583450, essv6278396, essv6360453, essv5433514, essv6056417, essv6486372, essv5689101, essv5936158, essv5847446, essv5412158, essv6135429, essv5989137, essv5685214, essv5554713, essv5934525, essv6223799, essv5464129, essv5599299, essv6586340, essv5922764, essv6035362, essv5596997, essv6105399, essv5460135, essv6383906, essv6561686, essv6551980, essv6335486, essv6537059, essv5633365, essv6299660, essv6345171, essv6149624, essv6305705, essv6135404, essv5410637, essv6523569, essv5400720, essv6197406, essv6324459, essv5756134, essv5540768, essv6591315, essv5966763, essv6215147, essv5474624, essv5510636, essv5958773, essv5855626, essv6117504, essv6198374, essv6465371, essv5435747, essv6316898, essv6313745, essv6109502, essv5639187, essv6352984, essv6389061, essv5872517, essv5899446, essv5785377, essv6388923, essv6568829, essv5964846, essv5942775, essv5725110, essv6171698, essv6339670, essv5700745, essv5518899, essv6278654, essv5610717, essv5546373, essv6435244, essv5404226, essv6280437, essv6022430, essv5445750, essv6011847, essv5944382, essv5580474, essv5546906, essv5745739, essv6478890, essv6092228, essv6380695, essv6340021, essv6442926, essv6238926, essv5593393, essv6517201, essv6425889, essv6203207, essv5408398, essv5438393, essv5975646, essv6593737, essv5934458, essv6061714, essv6519861, essv6311870, essv5949919, essv6541413, essv6068364, essv5490182, essv5488840, essv5569438, essv5439479, essv6510310, essv5516278, essv5466737, essv6163656, essv6004377, essv5892492, essv5487963, essv5884343, essv5702799, essv6162714, essv6085214, essv6518294, essv5791407, essv6580485, essv5578324, essv6567804, essv5844810, essv6456280, essv5722595, essv6050465, essv6444531, essv5803317, essv5894365, essv6006422, essv6130395, essv6308761, essv6248821, essv5954706, essv5653855, essv5529767, essv5538914, essv5625288, essv5901082, essv5702331, essv5571795, essv6037214, essv6544453, essv6074940, essv5450682, essv6180015, essv5492810, essv6350535, essv6293843, essv5592993, essv6432205, essv5659047
SamplesHG01060, NA19701, HG00592, HG01098, HG01356, NA19703, HG01462, NA19664, NA19332, NA18507, HG01188, NA18599, HG01374, NA18917, NA18603, NA18486, NA19393, NA18504, NA18530, NA18959, NA18606, HG00654, NA18602, NA18988, NA19396, NA19381, NA18944, HG01070, NA19319, NA19382, NA19315, NA18597, HG00702, HG00330, NA18942, NA18916, NA11992, NA18571, NA12287, NA19138, NA18498, HG01365, HG00537, HG00590, HG01134, HG00277, HG01455, NA19720, NA18874, NA12156, HG01495, NA19719, NA19137, NA19372, NA19371, NA19238, NA19731, NA18986, NA19901, NA18990, NA18520, NA19239, HG01048, NA12828, NA19985, HG01550, HG01124, NA18951, HG00443, HG00268, NA19391, NA18516, HG00436, HG00556, HG00533, NA19788, NA18871, NA18572, NA18948, HG00708, NA18537, HG01390, HG01073, NA19114, HG00690, HG00373, NA11894, NA20538, NA18856, NA18532, HG01101, HG00613, HG00140, NA18853, HG01334, NA19338, NA19761, NA19257, NA19225, NA12144, NA18523, NA19160, NA18536, HG00246, NA18570, HG00126, HG01204, NA19436, NA19401, NA18542, NA19440, NA18533, NA18909, NA11881, HG00336, HG00285, NA19834, NA19108, NA18559, NA18517, NA20276, NA19712, HG01253, HG00734, NA19240, NA19773, HG01357, NA20792, NA19470, NA19786, HG01108, NA20281, NA07037, NA06986, NA19398, NA19328, NA18501, HG00111, NA20582, NA19472, NA19223, HG00656, NA19713, NA19093, HG00174, NA18609, HG00310, NA19102, NA18873, NA19213, NA20528, NA18983, HG01251, HG00274, NA18488, HG01082, NA18624, NA18623, NA07000, HG01191, NA19346, NA18487, NA18562
Known GenesPCNX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675445
Frequency
Sample Size1151
Observed Gain0
Observed Loss163
Observed Complex0
Frequencyn/a


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