A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657457



Internal ID9923562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129357173..129363879hg38UCSC Ensembl
Outerchr3:129356802..129364449hg38UCSC Ensembl
Innerchr3:129076016..129082722hg19UCSC Ensembl
Outerchr3:129075645..129083292hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387648
hg197648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5518072, essv6558076, essv5758164, essv6512625, essv6415756, essv6192792, essv6136579, essv6019755, essv6001203, essv5586052, essv5433611, essv6476839, essv5535112, essv6584416, essv5570979, essv6068927, essv5985451, essv5842894, essv6210270, essv6064682, essv5559296, essv6219311, essv6176691, essv5551619, essv6024809, essv5739719, essv5926670, essv5566239, essv5624254, essv5833995, essv6160165, essv5916086, essv5671136, essv6560264, essv5516126, essv5420721, essv6345896, essv6067594, essv5819828, essv5603043, essv6059876, essv6162073, essv5530002, essv5662484, essv6011566, essv5418206, essv6193751, essv5792760, essv5450233, essv6541868, essv6495510, essv5775676, essv6390866, essv6253618, essv6247873, essv5884660, essv6365332, essv6382790, essv5536823, essv6593711, essv6321020, essv5861750, essv5623218, essv5933193, essv5956332, essv6553112, essv6532454, essv6022642, essv5999292, essv5832306, essv5781020, essv5496257, essv5934779, essv5495408, essv5491923, essv5441440, essv6466823, essv5668521, essv6555678, essv6315206, essv5898037, essv6433846, essv5679869, essv5478209, essv5734582, essv6154827, essv6074009, essv5672416, essv5660492, essv5794876, essv5500475, essv5480194, essv5582617, essv6566654, essv5602562, essv5567484, essv6278076, essv5975091, essv6022778, essv6283021, essv5902955, essv5586025, essv5939256, essv6490284, essv6163578, essv5599095, essv6021004, essv5964572, essv5507750, essv5465528, essv5753394, essv6480970, essv6072054, essv6581992, essv5855567, essv5776289, essv6561329, essv6292686, essv5626190, essv5890646, essv5410806, essv6173720, essv5966604, essv6018990, essv5466438, essv5519682, essv6178719, essv5703847, essv5491204, essv5526015, essv5503465, essv5852728, essv5984600, essv5928901, essv5653829, essv6159379, essv6216597, essv6467027, essv6328561, essv6301604, essv6338755, essv6053160, essv6342898, essv5886035, essv6584897, essv5749341, essv5631009, essv5616090, essv6338247, essv5875711, essv6361426, essv5955213, essv5691718, essv6070711, essv5596628, essv5746319, essv5709504, essv6126129, essv5696455, essv6586314, essv5703779, essv5643021, essv5595664, essv5642887, essv5441555, essv6573839, essv6476043, essv5922356, essv5666921, essv5847216, essv6510369, essv5912448, essv5846678, essv5716150, essv5508465, essv6446174, essv5494291, essv6535083, essv5904582, essv6351009, essv5453575, essv6210217, essv6002344, essv5630210, essv5522486, essv6451586, essv6203585, essv6011202, essv5933621, essv6048283, essv6479638, essv5954566, essv5586674, essv5857298, essv5847712, essv5942966, essv5634839, essv6535590, essv5965117, essv6001584, essv6216383, essv5845009, essv5665787, essv6146797, essv5720551
SamplesNA19394, NA18502, NA19701, NA19058, NA19703, NA19397, NA18924, NA18861, NA18508, NA19399, NA19332, NA19704, NA18999, NA18917, NA19350, NA19359, NA18486, NA20294, NA19355, NA19819, NA19393, NA19057, NA18504, NA20332, NA19377, NA18959, NA20346, NA19443, NA19190, NA18870, NA20356, NA19067, NA18967, NA19374, NA19068, NA19396, NA19373, NA19076, NA19379, NA19005, NA18944, NA18519, NA19319, NA19382, NA19315, NA18489, NA19448, NA19119, NA18982, NA18923, NA19198, NA19916, NA18942, NA19062, NA19197, NA19054, NA18498, NA20287, NA19904, NA19384, NA18964, NA20291, NA19130, NA19079, NA18949, NA19404, NA19383, NA18874, NA19917, NA19372, NA19371, NA19235, NA19075, NA19471, NA19317, NA19087, NA19159, NA19189, NA18520, NA18985, NA20342, NA19456, NA19445, NA18975, NA20127, NA18908, NA19985, NA18973, NA18867, NA19451, NA19200, NA19007, NA19908, NA19247, NA19437, NA19082, NA19707, NA19056, NA18934, NA19403, NA19462, NA19347, NA19152, NA18956, NA19391, NA19327, NA19455, NA19236, NA18516, NA19982, NA19081, NA18910, NA18871, NA18976, NA20344, NA18981, NA18907, NA19461, NA19114, NA19000, NA19449, NA19453, NA18912, NA18853, NA20282, NA19099, NA19338, NA19257, NA19009, NA19452, NA19225, NA18523, NA19318, NA19160, NA19395, NA19625, NA18858, NA19012, NA18974, NA20296, NA18953, NA19401, NA19375, NA19003, NA19390, NA19321, NA19108, NA18961, NA18952, NA19256, NA18517, NA20276, NA19712, NA19434, NA19072, NA19435, NA19444, NA19331, NA19380, NA19144, NA19835, NA19334, NA19439, NA19428, NA19324, NA19311, NA19467, NA19083, NA18943, NA20281, NA19360, NA20341, NA19818, NA19376, NA19328, NA19078, NA20348, NA19248, NA19438, NA19472, NA19223, NA18987, NA19474, NA19093, NA19102, NA18873, NA19116, NA19080, NA19711, NA19213, NA18983, NA18984, NA19430, NA18989, NA19129, NA19004, NA19316, NA19463, NA18511, NA19063, NA18522, NA19429, NA19346, NA19153, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657457
Frequency
Sample Size1151
Observed Gain0
Observed Loss205
Observed Complex0
Frequencyn/a


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