A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670486



Internal ID9936591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82984140..82984282hg38UCSC Ensembl
Outerchr17:82984092..82984359hg38UCSC Ensembl
Innerchr17:80942016..80942158hg19UCSC Ensembl
Outerchr17:80941968..80942235hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5657931, essv6429506, essv6567634, essv5676153, essv5649241, essv5665597, essv6202332, essv6043084, essv6128994, essv6176296, essv5956952, essv6216302, essv6416288, essv5706661, essv5410084, essv5567226, essv6103743, essv6170506, essv5527873, essv6580441, essv6377806, essv5431969, essv5739029, essv5434769, essv5696798, essv5902038, essv5639163, essv6218894, essv5548918, essv6346715, essv5905987, essv6120325, essv5402335, essv5640995, essv6410345, essv6478210, essv6124497, essv5437695, essv5918977, essv6559162, essv5811866, essv5842748, essv6432728, essv6041835, essv6253101, essv5826762, essv6554775, essv5932225, essv6438438, essv6311302, essv5751327, essv5967725, essv6052868, essv5742175, essv6591831, essv5933204, essv5815117, essv6270991, essv6002168, essv6413382, essv6362858, essv6415038, essv5947909, essv5445582, essv6325999, essv6016601, essv6312214, essv5754418, essv5618147, essv5503005, essv5960789, essv5692026, essv6226518, essv5525426, essv6191852, essv5564613, essv6249641, essv5676941, essv6135359, essv6079116, essv6211100, essv5684316, essv6418636, essv5834623, essv5868336, essv5901588, essv5888106, essv5567597, essv6519360, essv5754005, essv6171642, essv6393050, essv5957081, essv6148481, essv6093830, essv6205294, essv6576396, essv5460062, essv6255595, essv5565380, essv5473391, essv6144936, essv6272466, essv6262690, essv5772135, essv5418165, essv6379587, essv5723308, essv6390125, essv6529009, essv5793461, essv5544484, essv6403173, essv6343015, essv6398703, essv6080763, essv5774311, essv5606167, essv6253407, essv5925522, essv6296247, essv5450494, essv5753626, essv6324950, essv6455906, essv5628648, essv5917532, essv5702686, essv6046032, essv6209434, essv5922116, essv6166797, essv6393878, essv5831770, essv5762374, essv5603529, essv6546478, essv6393513, essv6282664, essv6487037, essv5646330, essv5903895
SamplesNA19394, NA20761, HG00650, NA19700, NA18507, HG01374, HG00151, NA20802, NA19092, NA18486, NA20294, NA19393, NA19684, NA19377, HG00449, HG00654, NA19443, NA19920, NA20771, NA18510, NA12155, NA18988, NA19446, NA07346, NA19374, NA20796, NA18550, NA19319, HG00501, HG00122, NA19762, HG00702, HG00689, NA18923, NA19198, NA18567, NA20795, NA18619, NA20769, NA18942, HG00736, HG00346, NA20768, NA19313, HG00369, NA19782, NA19904, HG00311, NA20291, NA20541, NA20759, HG01067, NA19383, NA18874, HG01519, NA18868, HG01072, NA18560, HG00182, NA19002, NA18990, NA19445, NA20127, NA18908, NA19789, HG01124, HG00176, NA19707, NA18934, HG00245, NA19077, NA18933, NA19391, NA19455, NA20314, HG01498, NA19788, NA20126, NA20344, HG00708, HG00692, HG01390, HG01047, HG00284, NA19084, NA11893, HG01197, NA18499, HG00684, HG01383, NA19453, HG01101, NA20282, NA19009, HG00276, HG00152, HG01107, HG01204, NA19375, NA20799, NA19834, NA19147, NA19747, HG00565, HG00366, NA19072, HG00357, NA07051, NA19010, NA19835, NA20792, NA19439, NA19786, NA19467, NA20797, HG01489, NA19328, NA19078, HG00672, HG00614, HG00111, NA20348, NA19785, HG00312, NA18631, NA20582, HG00656, NA19713, HG01055, NA20786, NA19213, HG00343, NA19900, HG00274, HG01377, NA07056, NA19004, NA19312, NA19429, NA18622, HG01061, NA19431
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670486
Frequency
Sample Size1151
Observed Gain0
Observed Loss142
Observed Complex0
Frequencyn/a


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