A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678038



Internal ID9944143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68512339..68512661hg38UCSC Ensembl
chr10:70272096..70272418hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6398923, essv6406155, essv5770669, essv5891648, essv6523669, essv5758534, essv5680897, essv6217871, essv6200103, essv5982270, essv5455607, essv6147545, essv5528246, essv5754037, essv5861680, essv5915017, essv5742769, essv6498100, essv6447922, essv5559029, essv5781255, essv5949748, essv6537992, essv6282792, essv5879972, essv6363602, essv6139995, essv6223653, essv6398738, essv5475973, essv6140630, essv5795494, essv5660056, essv5641996, essv5432837, essv5771177, essv6522906, essv5752170, essv6546163, essv5965852, essv6146362, essv5671224, essv5850942, essv5764877, essv5956079, essv5484687, essv6496405, essv5513425, essv5506204, essv6033750, essv6224979, essv6505629, essv5819605, essv5799966, essv6562847, essv6313680, essv5924579, essv6082874, essv5442234, essv6233573, essv5749243, essv6385617, essv5802484, essv6216303, essv6101777, essv6518424, essv5945719, essv5997261, essv5708923, essv6164888, essv6456174, essv6263526, essv6063986, essv5915153, essv6468483, essv5591854, essv6032810, essv6566805, essv6318802, essv6568427, essv6203586, essv5902104, essv5614267, essv6513984, essv5586650, essv5833067, essv5936043, essv5906861, essv5976034, essv5815040, essv6563489, essv5821963, essv6507713, essv6392200, essv5892004, essv6436021, essv5440519, essv5400628, essv5746618, essv5510422, essv5669036, essv6292157, essv6039457, essv5593390, essv6110889, essv6395714, essv5400948, essv6596617, essv5865254, essv5589990, essv5606676, essv5469485, essv5454162, essv5410475, essv6068103, essv6442712, essv5993780, essv5771763, essv5882690, essv6467656, essv5696666, essv6553464, essv6227884, essv6590675, essv6335783, essv5888920, essv5908218, essv5814866, essv5845339, essv5742088, essv6594613, essv6315771, essv5432405, essv5421209, essv5855637, essv6114235, essv5875079, essv6101399, essv5737708, essv6187940, essv6493297, essv6403630, essv5962183, essv5955793, essv6016825, essv5816132, essv6173296, essv6016058, essv5755239, essv6519144, essv6205031, essv5625729, essv6065497, essv5483768, essv6169671, essv6223041, essv5441541, essv5672700, essv5529879, essv5614088, essv6033186, essv6033726, essv6313636, essv5457910, essv5494608, essv6221651, essv6096410, essv6278401, essv6395506, essv5567090, essv5681571, essv6044753, essv5545434, essv6475513, essv5980093, essv5602580, essv5925158, essv6394827, essv6235043, essv6489725, essv5761199, essv5496865, essv5935577, essv6334573, essv6515183, essv5417699, essv5894421, essv5517865, essv5757608, essv6030379, essv6527119, essv5659069, essv5964051, essv5755090, essv6206345, essv6180391, essv5993175, essv6082343, essv5862595, essv5815482, essv6435209, essv6134807, essv6280329, essv5795610, essv5969515, essv5891870, essv5500702, essv5708640, essv5503318, essv5840630, essv5688524, essv5733737, essv5635581, essv5650245, essv6261086, essv5459375, essv6531631, essv5831649, essv5530208, essv6389207, essv6190689, essv5599740, essv6318062, essv5586563, essv6128470, essv5983079, essv5677304, essv5870525, essv5696506, essv6335586, essv6503459, essv6147507, essv6387788, essv6533817, essv5759720
SamplesNA19394, NA18502, HG00650, HG00442, HG01462, NA20508, NA19664, HG00671, HG00242, NA18861, NA18508, NA19399, HG01066, HG00315, NA20816, NA18999, HG00244, NA19350, NA12751, HG00153, NA18959, HG00337, NA12813, NA19171, NA18519, NA19319, NA20589, HG01177, NA18558, HG01492, NA11918, NA07347, NA18571, HG01083, HG01365, NA20287, NA19384, HG00537, HG00243, NA18949, HG00158, HG00512, HG01080, NA12156, NA18868, HG00325, NA12044, NA19207, NA19172, HG00705, HG00326, NA20127, NA18867, NA19789, HG00137, HG00154, NA18605, NA19908, NA12489, HG00443, NA18538, HG00266, NA19403, NA18933, NA20314, NA19663, HG00556, HG00344, NA18871, NA18948, NA18981, NA18907, HG00284, HG00479, NA12829, HG00331, NA18912, NA18523, HG00463, NA19395, NA19625, HG01107, NA18974, NA19729, NA19390, HG00336, NA19256, NA18517, HG00734, HG01174, NA20530, HG01113, NA20544, HG01137, NA12763, HG00418, NA18610, HG01489, HG00620, NA18501, NA06994, NA18631, NA19093, NA19102, NA18873, HG00280, NA11843, NA19116, NA19780, NA19900, NA20503, NA19430, HG01111, HG01125, NA18968, NA19463, NA12154, NA18612, NA19346, NA18577, HG00096, HG01521, NA19397, NA19466, NA11829, HG00524, HG01052, NA19332, NA18980, NA18561, HG01374, HG00306, NA12045, HG00640, NA18486, NA19819, NA12004, NA19777, NA20346, NA19098, NA18870, NA07357, NA18967, NA19005, NA19201, HG00501, NA18489, NA19448, NA18595, HG00448, NA19131, NA18942, HG00610, HG00346, NA19771, NA19138, HG00369, NA18498, NA20513, NA18874, HG00236, NA18977, NA19137, NA19371, HG01440, NA19159, NA19901, NA19725, NA19189, NA18520, HG00159, NA19209, NA19445, NA18975, NA18908, NA18973, NA18638, NA19007, NA10847, HG00543, NA18544, NA19210, NA19437, NA12342, NA19077, HG00428, NA19462, NA18956, HG00475, NA18516, HG00436, NA18976, NA18566, NA19114, NA19449, NA18856, NA12892, HG00613, HG00321, NA18853, NA19160, NA20542, HG01204, NA19436, NA18909, NA11881, NA19108, NA18961, NA19732, HG00136, HG00638, NA19773, NA19380, NA19144, NA20785, NA20504, NA20797, NA07037, HG00269, NA19759, HG00111, NA18971, NA19060, NA19713, NA19213, NA20528, NA19661, HG01377, NA07056, NA18505, NA18488, NA18511, HG00180, HG00437, NA18562
Known GenesSLC25A16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678038
Frequency
Sample Size1151
Observed Gain0
Observed Loss235
Observed Complex0
Frequencyn/a


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