A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667582



Internal ID9587001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88741763..88741913hg38UCSC Ensembl
chr16:88808171..88808321hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6439703, essv5610855, essv5633406, essv6442772, essv5430845, essv6301719, essv5753706, essv5814136, essv5501631, essv5461249, essv5428551, essv5733431, essv5932758, essv6292176, essv5630423, essv6181272, essv5777269, essv5963656, essv6268298, essv5641360, essv6032215, essv5718298, essv5515272, essv6053037, essv6054745, essv6070180, essv5826719, essv6074399, essv6111973, essv6517914, essv5487792, essv5753585, essv5707303, essv5724749, essv5906689, essv5679819, essv5760004, essv6079799, essv5804610, essv6323384, essv6575640, essv5914580, essv5975757, essv6182039, essv5792800, essv5698718, essv6251976, essv6146100, essv6278515, essv5934709, essv6564026, essv5429108, essv6542445, essv5593107, essv6486631, essv6579590, essv5410401, essv6403517, essv6248762, essv6554528, essv6132341, essv6273757, essv5669008, essv5922336, essv6544481, essv6274255, essv5755707, essv6550770, essv6082500, essv5435161, essv6054054, essv5469683, essv5504398, essv6428476, essv6172724, essv5850722, essv6304628, essv5785615, essv6097256, essv5701148, essv5692665, essv5622182, essv6598374, essv6289976, essv6103382, essv5550263, essv5637309, essv5875320, essv6112865, essv6241190, essv6400108, essv5423651, essv6129005, essv5529295, essv5441070, essv5595316, essv5480806, essv5834026, essv5663193, essv5871844, essv6099807, essv5633608, essv5789477, essv6442493, essv6446038, essv5956404, essv6300685, essv5793054, essv6403269, essv5647371, essv5466627, essv5849972, essv6188149, essv6377998, essv5669894, essv5567764, essv5646014, essv6583250, essv6015777, essv6314436, essv6359689, essv6531374, essv5469811, essv5855384, essv5910615, essv6336353, essv5466859, essv5562852, essv6118184, essv6170217, essv5558776, essv5942096, essv6028350, essv6100344, essv5998660, essv6092192, essv5658162, essv6465743, essv5423453, essv5974286, essv5508727, essv5697515, essv6375487, essv5772928, essv6199909, essv6294752, essv6439424, essv5455935, essv5809224, essv6070445, essv6302639, essv6076272, essv6421364, essv5535313, essv6182266, essv6445934, essv5415383, essv5522663, essv6560610, essv5992835, essv6480695, essv5921579, essv5986600, essv5540220, essv5843609, essv6301861, essv5783202, essv6102751, essv6132592, essv6565794, essv5607306, essv6224021, essv5479669, essv5668242, essv6034426, essv6569049, essv5816046, essv5946199, essv6320004, essv6443254, essv5786451, essv6215141, essv6332193, essv5681006, essv6208787, essv5941703, essv6282542, essv6176596, essv5436443, essv6184969, essv6089316, essv5695525, essv5879552, essv5612451, essv6516710, essv5841483, essv6154089, essv5816226, essv6451035, essv6520082, essv6007444, essv6568440, essv6352716, essv5469592, essv5518475, essv6235932, essv6324087, essv5530358, essv6490828, essv6392038, essv5809013, essv5433636, essv5421788, essv5435887, essv5719807, essv6578192, essv6050826, essv6498249, essv5985356, essv5763432, essv6339407, essv5611268, essv5616204, essv5835231, essv6274624, essv6319834, essv5589030, essv5993992, essv6144372, essv5730178, essv5765257, essv6271117, essv6051324, essv5480156, essv5578815, essv6184315, essv5735720, essv5850182, essv6118199, essv6484000, essv6595862, essv5939679, essv5452856, essv5525273, essv6473342, essv6222036, essv5480516, essv6082924, essv5686621, essv5909297, essv6451899, essv6457784, essv5570675, essv5906542, essv6110643, essv6394299, essv5643805, essv6379855, essv6485449, essv5428275, essv5620621, essv5620336, essv6556252, essv5820754, essv6004198, essv6309205, essv6568338, essv5678344, essv6346150
SamplesHG01357, HG00613, HG01441, HG00309, NA19312, NA12154, HG00537, HG00252, NA18605, HG01440, NA07347, HG00257, NA18595, NA20771, HG00619, NA18534, HG00344, HG01353, NA18530, HG00418, HG01519, HG00328, HG01055, NA18952, HG00705, HG00437, NA20516, HG00500, HG01173, NA18612, HG00464, HG00131, NA20796, HG00449, HG00310, NA18550, NA19072, HG00261, NA19223, NA20299, HG01389, NA20296, HG00463, NA19317, HG00614, HG01365, HG01492, NA20800, HG01082, NA18953, NA19451, NA20529, HG00542, HG01174, HG00326, NA18542, HG01350, HG00139, NA18546, HG00701, HG00683, HG00111, HG00581, HG01204, NA07051, HG00651, HG00280, HG00557, HG01101, HG00331, NA20798, HG00319, HG00253, HG00699, NA20322, NA20755, NA20803, HG01551, HG01171, HG00353, HG00479, HG00342, HG00543, HG01107, NA18559, HG00321, HG01550, NA20761, HG00556, NA19428, NA11919, NA12763, NA19383, NA12843, HG00346, NA18624, NA18934, HG00250, HG01140, NA18508, NA19390, HG00421, HG00583, NA12004, HG00337, HG01378, NA18536, NA18576, HG00259, NA20757, HG01048, HG00610, NA20530, NA20783, HG00372, HG00692, NA20801, NA20807, NA18636, HG01124, NA18856, NA19088, NA19397, NA20127, HG00330, NA18638, NA11933, NA20541, HG00533, HG00125, HG00258, HG01360, NA19985, NA12829, NA18637, NA20282, NA18593, HG00254, HG00276, NA12830, NA19457, HG00237, NA20773, NA12751, HG01497, NA12006, HG00436, NA19360, HG01437, HG01097, NA18620, NA19172, NA19372, NA18572, HG00268, HG01066, NA19373, NA19384, NA18923, NA19102, HG00263, NA06986, NA19005, NA20334, NA18510, NA19657, HG01073, HG00501, HG00282, HG00232, HG01069, HG01356, NA18504, HG00249, HG00478, HG00277, HG01080, HG01351, HG00740, HG00513, HG00524, NA20542, NA19720, HG00329, HG00512, HG01070, HG00246, NA18562, HG01060, NA19382, NA18579, NA19789, HG00236, NA18606, NA18940, NA18619, NA10851, NA18582, NA20581, HG01137, HG01095, NA18599, NA18907, NA20276, NA20799, HG00650, NA19394, NA19403, NA19009, HG00138, NA12889, HG00580, HG01112, HG00448, NA18602, NA18577, HG01390, NA18614, NA20507, NA20513, NA18548, NA11830, NA12003, HG00123, HG00281, NA12546, NA12842, HG00142, NA18571, HG00422, NA18924, NA19371, HG00708, HG01108, NA18610, HG01251, NA19315, HG00693, NA11932, NA18611, HG01125, HG00251, HG00320, HG00324, HG00690, NA20528, NA18532, HG00442, HG00473, HG00137, NA19381, HG00684, NA19758, NA19087, HG00704, NA18555, NA19750, HG00278, NA20519, HG00136, HG01067, HG01354, NA19439, NA12827, NA12043, NA19445, HG00318, HG00536, HG00607
Known GenesPIEZO1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667582
Frequency
Sample Size1151
Observed Gain0
Observed Loss269
Observed Complex0
Frequencyn/a


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