A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656605



Internal ID9576024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3868272..3868500hg38UCSC Ensembl
chr16:3918273..3918501hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6098187, essv6546823, essv6249760, essv5951897, essv5819832, essv5517440, essv5688591, essv5549942, essv5478181, essv6092902, essv6480223, essv5894283, essv5696900, essv5800518, essv6161254, essv6172240, essv6104277, essv5589460, essv5877658, essv6427346, essv5986909, essv6400907, essv6548849, essv6145012, essv5638192, essv5568352, essv6296808, essv5557756, essv5961121, essv6496092, essv5534436, essv6225510, essv5688166, essv5510031, essv5509065, essv6466511, essv6488664, essv5580767, essv5844445, essv5785797, essv5581027, essv5738733, essv5748970, essv5639322, essv5852056, essv6335569, essv5715489, essv6593957, essv6271043, essv5784782, essv5530952, essv6534163, essv6265131, essv6244016, essv5666752, essv6529539, essv6134526, essv6063226, essv5889677, essv6419012, essv5651637, essv5857888, essv5608242, essv5770501, essv6374559, essv6423326, essv5994705, essv6322394, essv5539049, essv6272278, essv6127340, essv6565215, essv5562711, essv5408618, essv6580898, essv5587449, essv6365676, essv6329754, essv5585322, essv6115803, essv5742656, essv5617842, essv6424627, essv5632886, essv5790419, essv6316342, essv6259982, essv5686998, essv6330865, essv5597378, essv5403317, essv6569922, essv6319707, essv5925956, essv6235087, essv5493146, essv6036811, essv5748358, essv5785027, essv5919656, essv5711869, essv6597982, essv5611456, essv6146408, essv6056490, essv6549530, essv6500602, essv5612034, essv6031095, essv6346718, essv5772019, essv6425527, essv6083791, essv5429041, essv6226051, essv6301876, essv6375070, essv5776934, essv6208052, essv5819269, essv5400587, essv5595767, essv6465270, essv5396305, essv6354038, essv5987605, essv6527049, essv6091450, essv6006507, essv6230097, essv5652840, essv6555031, essv5858964, essv5909639, essv5714783, essv6291630, essv5728165, essv5477862, essv5728402, essv6035627, essv5860400, essv6539855, essv5463769, essv6351643, essv5879840, essv5434734, essv6104960, essv5685569, essv6125856, essv5800990, essv6582419, essv5558083, essv5847797, essv5641038, essv5719092, essv6213802, essv6199857, essv5926702, essv5858301, essv6279028, essv5484946, essv6578317, essv6205519, essv5906339, essv6544465, essv5918293, essv5995773, essv5835839, essv5547351, essv5421418, essv5569628, essv5734571, essv6572387, essv6156602, essv5936145, essv5850256, essv5688870, essv5667264, essv6583112, essv6273218, essv5584847, essv5582149, essv6534324, essv6006837, essv6467076, essv5913617, essv5412325, essv6231332, essv5490926, essv6543037, essv5429256, essv5731056, essv5564916, essv5928648, essv5537732, essv6460663
SamplesNA18612, HG00437, HG00581, NA18965, NA18620, HG00593, HG00626, HG00403, HG01060, HG00114, HG00650, HG00542, NA12717, HG00442, NA19058, HG00608, NA18621, HG00142, NA11995, NA11829, HG00671, NA18592, HG00559, HG00524, HG00187, NA18980, NA18561, NA18599, HG00315, NA20813, NA18999, HG00233, NA18603, HG00367, NA18486, NA18545, NA18596, NA18530, NA18606, HG00449, HG00654, NA18526, NA12400, NA18633, NA07357, NA18602, HG01140, HG00693, HG00337, HG00663, NA07346, NA19068, HG00138, NA18940, NA18595, HG01177, NA18982, NA18942, HG00610, NA19088, NA18571, NA12287, NA18964, HG00537, NA18611, NA12761, HG01134, HG00512, NA20539, HG01067, NA12156, NA18977, HG00325, HG01072, NA12044, NA11994, NA19075, NA12889, NA19002, NA18990, NA18557, NA18985, NA12828, NA18975, NA18973, HG00530, HG00419, HG00253, NA11993, HG00108, HG00543, HG00137, HG00133, HG00188, NA18544, HG00560, NA18605, NA18613, HG00443, NA19070, NA19056, NA19670, HG00596, HG00557, NA12003, HG00428, NA18956, HG01095, NA20760, NA18991, HG00436, HG00584, HG00583, NA18637, HG00500, NA20506, NA19658, NA18572, NA18534, NA20770, NA18630, HG00619, NA18548, HG01047, NA20525, NA18566, NA19000, NA19655, NA18626, HG00404, HG00531, HG00331, HG00684, NA18856, NA12249, NA19750, NA18532, NA18553, NA19059, HG01334, HG00152, HG00704, NA12144, HG00463, NA18570, NA12546, HG01204, NA19012, NA18546, NA18608, NA18953, NA19003, HG00258, HG00611, HG00476, HG00124, HG00155, HG00119, NA18535, NA19834, NA18961, NA18952, NA18559, NA18564, NA20815, HG00734, NA20520, NA07051, NA20790, NA20530, HG00473, HG00607, HG00237, HG00319, NA06986, HG00125, NA19078, HG00707, HG00478, HG00421, HG00656, HG01055, NA12830, HG00112, NA18983, HG00252, NA19661, HG00472, NA18989, HG01378, HG00628, NA18968, NA18624, NA18623, NA18511, NA07000
Known GenesCREBBP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656605
Frequency
Sample Size1151
Observed Gain0
Observed Loss196
Observed Complex0
Frequencyn/a


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