A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667518



Internal ID9586937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113802582..113803662hg38UCSC Ensembl
chr13:114505555..114506635hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6416508, essv5859446, essv6373827, essv5899699, essv6444915, essv6007919, essv6172556, essv5440845, essv6252588, essv6177390, essv5546471, essv6462650, essv6313201, essv5469875, essv6013012, essv5996496, essv6336640, essv5544923, essv5673474, essv6080088, essv5662548, essv6194203, essv5893967, essv6346699, essv5458238, essv6465342, essv5865624, essv6113825, essv5989140, essv6572722, essv5934171, essv5570827, essv5436873, essv6131209, essv6229621, essv5664262, essv5765530, essv6469317, essv6000672, essv5437912, essv6144707, essv5608281, essv5650587, essv5905091, essv6071520, essv6176909, essv5936902, essv5792406, essv5524113, essv5618108, essv5996972, essv5939896, essv5837337, essv6077412, essv6187558, essv6577753, essv6537843, essv6289493, essv6138863, essv6497165, essv6270951, essv5943073, essv5801749, essv6251743, essv6017555, essv6063330, essv6522501, essv5722864, essv6148074, essv5766923, essv5748359, essv5519597, essv5466494, essv6514707, essv6393083, essv5532219, essv5921837, essv6436773, essv5779821, essv6508855, essv6376348, essv5745607, essv6258473, essv5867873, essv5577720, essv6437914, essv5851593, essv5980995, essv5814264, essv6474146, essv6565664, essv5756868, essv6555138, essv5656498, essv5911211, essv6458188, essv5865560, essv5447151, essv5470784, essv6358825, essv6419619, essv5912829, essv5883763, essv5816716, essv5420178, essv5467060, essv5438197, essv5880253, essv5849412, essv6142419, essv5995667, essv5714641, essv6000090, essv5702101, essv5552109, essv6535395, essv6344306, essv5568615, essv5524117, essv6347194, essv6131463, essv5912353, essv5870405, essv5729758, essv6260488, essv6521423, essv6197374, essv5669594, essv6494260, essv5574866, essv6084286, essv6390732, essv6153317, essv6101425
SamplesNA19701, NA11830, HG00143, HG00142, HG00249, NA20508, NA19664, NA11995, NA19204, NA10851, HG01079, NA12843, HG00315, HG00306, NA20752, NA20802, NA19350, NA19393, NA12340, NA12058, NA20346, NA20517, NA20771, NA12750, NA12399, NA07357, NA20806, HG00271, NA20814, NA19446, HG01250, HG01070, HG00122, NA18597, NA20798, NA20586, HG00173, NA20756, NA12891, NA20769, NA19131, NA18916, NA11992, NA12287, NA19904, HG00311, HG00158, HG01134, NA12282, HG00277, NA20518, NA20819, NA20775, HG01170, NA20812, HG00232, NA19372, NA19172, NA19239, NA19445, NA20757, NA18973, NA20515, HG01353, HG00133, HG00154, NA19247, NA19657, NA19670, NA19347, NA12878, HG00732, NA20521, NA20760, NA19236, NA18516, NA19982, HG00275, NA20770, NA19776, HG00740, NA20525, NA20581, HG00331, NA11894, NA20538, HG01383, NA12892, HG00140, HG01334, NA12144, NA19318, NA12778, NA20801, NA11881, HG00336, NA19321, NA19108, NA19712, NA19749, HG00353, NA12272, NA20804, NA19240, NA20785, NA20527, NA20792, NA20778, NA19679, NA19428, HG01137, NA20516, NA20797, NA07037, HG00256, HG01489, NA20341, HG01491, HG00174, NA20289, NA19770, HG00280, NA20758, NA19116, NA20826, NA20502, NA19129, HG01378, NA18488, HG01111, NA12890, NA19346, HG01437, NA19153
Known GenesTMEM255B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667518
Frequency
Sample Size1151
Observed Gain0
Observed Loss134
Observed Complex0
Frequencyn/a


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