A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667105



Internal ID2900192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36492138..36492460hg38UCSC Ensembl
chr21:37864436..37864758hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6294057, essv6532559, essv5873835, essv6273080, essv5511298, essv6548262, essv6515424, essv6063443, essv5638686, essv5681385, essv6474583, essv6475634, essv6357576, essv6582474, essv5601601, essv5504843, essv6101280, essv6498421, essv5774735, essv6330791, essv5439109, essv5829700, essv5452641, essv6414556, essv6097077, essv6285485, essv5623480, essv5584317, essv6574930, essv6288627, essv6277383, essv6042596, essv6213784, essv6187998, essv5469289, essv5932680, essv5400135, essv5479508, essv5423538, essv6179129, essv5529170, essv6382757, essv6550413, essv6483743, essv6085917, essv6408080, essv6361142, essv5635989, essv5543840, essv6114494, essv5426853, essv6416668, essv5528863, essv5703186, essv5952397, essv5921046, essv6164518, essv5659962, essv6030408, essv5809498, essv5871651, essv6448257, essv6164009, essv5528229, essv5660758, essv5728111, essv5687816, essv5730611, essv5542870, essv6348123, essv6135783, essv6025775, essv6146580, essv6589830, essv5464445, essv6359154, essv6200354, essv6009708, essv5820190, essv5595786, essv6150526, essv5891240, essv5411372, essv6276299, essv6453424, essv5898590, essv6342564, essv6342210, essv5784348, essv6371567, essv6332059, essv5583143, essv5420785, essv5911858, essv5969386, essv5509256, essv5715957, essv5716668, essv5484683, essv5616392, essv5914570, essv5714541, essv5582002, essv6555970, essv6066807, essv5944335, essv5539387, essv6369480, essv5805976, essv5942628, essv5957198, essv5436231, essv5626971, essv6451151, essv6051365, essv5806356, essv5641393, essv6530982, essv6076935, essv5787699, essv6004897, essv5416700, essv6415183, essv5587178, essv6161752, essv5623426, essv6477285, essv6059555, essv5854683, essv6471071, essv6411113, essv6202231, essv5940801, essv5647700, essv5527951, essv6333795, essv5667645, essv5488967, essv5583747, essv6276873, essv5499534, essv6309568, essv6133264, essv5495076, essv5492348, essv6256334, essv6420557, essv6528620, essv6467549, essv6241763, essv6421324, essv6388725, essv5533663, essv5482635, essv5797358, essv5437158, essv5787006, essv5815743, essv5404303, essv6008421, essv5758445, essv5923433, essv6407314, essv5473003, essv5425451, essv5517555, essv6210091, essv6047992, essv6058758, essv6365219, essv6443297, essv6285999, essv5814435, essv6343496, essv6439618, essv5409258, essv5604142, essv5771578, essv6034006, essv6282006, essv5471884, essv6393958, essv6195497, essv6256380
SamplesHG01357, HG00613, NA12827, NA18621, NA19248, NA19312, NA19445, NA18605, HG00536, HG00607, NA18616, NA18951, NA20522, HG00619, NA18530, NA18535, NA18630, HG00418, NA18561, HG01055, NA18874, HG00437, HG01173, HG00464, NA19093, NA19401, HG00449, NA18550, NA19003, NA19072, HG00707, NA19435, NA19319, NA18948, HG00463, HG00657, HG00614, NA20808, HG00428, NA20342, HG01491, NA18608, HG00148, NA20786, NA18542, NA19461, NA19379, HG00581, NA19004, HG00557, NA19236, NA18505, NA19472, NA19467, NA18873, NA18950, NA19776, NA18628, NA18868, NA18632, HG00635, HG01107, NA18559, NA19062, HG00556, NA19428, NA19383, NA19982, NA19085, NA19054, NA18627, HG00472, NA19390, NA19652, HG00421, NA18635, NA12155, NA18576, NA18622, NA18960, NA18563, NA19443, NA18623, NA20757, NA19107, NA20783, HG00692, HG01183, NA18592, NA18638, NA18956, NA19398, NA18959, HG00533, NA18609, HG00419, NA18547, NA18637, NA20336, NA19082, HG00584, NA18539, NA19190, NA19213, HG00436, NA19725, NA19313, NA19189, NA19372, NA19374, HG00629, NA18510, HG00560, NA19002, NA19713, NA18977, HG00501, HG00672, NA19901, NA19704, HG00478, NA18564, HG00740, HG00524, HG00512, NA19707, NA18562, NA19074, NA18985, NA19462, HG00589, NA18606, NA18543, NA18619, HG00427, HG00590, NA19376, HG00443, NA18909, NA19078, NA20332, NA18867, NA19394, NA18565, NA18631, NA18560, HG00580, NA18544, HG00448, NA18577, NA19099, NA18614, NA19452, NA18533, NA18548, NA19064, NA18944, NA19655, NA18499, NA18924, NA19371, HG00708, HG00693, HG00566, NA19130, NA20768, HG00625, NA12717, HG00442, HG00473, HG00137, NA19079, HG00626, NA18615, HG00476, NA19087, NA19468, HG00702, HG00704, NA18555, NA19065, NA19466, NA19746, HG00531
Known GenesCLDN14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667105
Frequency
Sample Size1151
Observed Gain0
Observed Loss184
Observed Complex0
Frequencyn/a


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