A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667967



Internal ID9587386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28596065..28608990hg38UCSC Ensembl
chr16:28607386..28620311hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812926
hg1912926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514031, essv5571772, essv5702498, essv5399691, essv6225895, essv6308476, essv5523075, essv5618014, essv5864140, essv6079217, essv6218746, essv6426912, essv6443105, essv5640111, essv5780557, essv6069842, essv6395927, essv6123289, essv6074400, essv5521328, essv6571671, essv5546208, essv5455906, essv6133353, essv6578231, essv6325689, essv6417918, essv5813063, essv6414616, essv5887441, essv5662872, essv6461357, essv5495480, essv5521681, essv5666535, essv6426382, essv5755625, essv5918263, essv5985683, essv5805092, essv6320499, essv5413799, essv5657994, essv5714099, essv5829409, essv5886584, essv5624067, essv6574133, essv6471814, essv5470936, essv5875997, essv5605370, essv6044542, essv6000713, essv6417535, essv6065264, essv6190447, essv5566268, essv6224492, essv5744559, essv6273588, essv6169267, essv6518378, essv5647977, essv5707009, essv5613350, essv5544087, essv5464839, essv5426043, essv6316768, essv5554800, essv5606870, essv5908771, essv5423759, essv5649092, essv6570580, essv6091852, essv6570027, essv5862906, essv6167671, essv5626399, essv5419483, essv5408647, essv6271328, essv5587504, essv5432742, essv6165635, essv6324443, essv6542792, essv5649447, essv6463667, essv6495835, essv5455447, essv6131281, essv5500503, essv5745061, essv6453618, essv5774088, essv5431644, essv5593211, essv5895558, essv6441367, essv6325098, essv5998295, essv5818781, essv6540560
SamplesHG01441, NA18870, HG00313, NA19436, HG00318, HG00257, NA20771, NA11930, HG00344, NA18535, HG01072, HG01052, NA20752, NA19114, NA20516, HG01173, HG01083, NA20510, HG00112, NA18501, NA19093, NA11918, NA20802, HG01365, HG00117, HG01082, HG00375, NA19338, NA19449, NA20786, HG00553, HG00187, NA19257, HG00319, NA18505, NA20803, NA18868, HG01133, HG00154, HG01107, NA19914, HG00242, NA12763, HG00250, HG01140, HG01375, NA19390, HG00638, HG01061, NA20530, NA20754, NA19088, NA20127, NA19398, NA19835, HG00264, NA18916, HG00237, HG00662, NA19213, HG00306, NA19377, NA19129, NA19189, NA20291, HG01191, NA19374, HG01066, NA20760, NA12778, NA19384, NA20826, NA18502, HG01073, NA19664, NA19901, HG01069, HG00116, NA19347, HG00513, HG01383, HG00236, NA19462, NA20525, HG01137, NA18907, NA06984, NA18538, HG00448, NA19755, HG00281, HG01366, NA20543, HG00708, NA11829, NA20528, NA19350, NA19079, NA20524, NA20804, NA19448, NA20517, NA19065, NA12775, NA19439, HG00361
Known GenesSULT1A1, SULT1A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667967
Frequency
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0
Frequencyn/a


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