A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667080



Internal ID9933185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11929987..12035036hg38UCSC Ensembl
chr8:11787496..11892545hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105050
hg19105050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1269e199
Supporting Variantsessv6415758, essv5847741, essv5709737, essv5659425, essv5403230, essv5814072, essv6525104, essv6479405, essv5464264, essv5626366, essv5953833, essv6237506, essv5659071, essv6495394, essv6016137, essv6496608, essv5991991, essv5414136, essv6138443, essv5834248, essv5882895, essv5873892, essv6394946, essv6022561, essv6126474, essv6076190, essv6299219, essv6081856, essv5909301, essv6259931, essv5937387, essv6437644, essv5881484, essv6402502, essv5717427, essv6271775, essv5706159, essv5770934, essv5453319, essv6588170, essv5917224, essv6528390, essv6083744, essv5771672, essv6441977, essv5550817, essv5640908, essv5925918, essv6022019, essv6377977, essv6119065, essv5511114, essv6095693, essv5708680, essv5488030, essv5899628, essv5904522, essv6382511, essv6355984, essv5882996, essv6454701, essv5459240, essv5708341, essv6485095, essv5757655, essv6543634, essv5821501, essv5638128, essv6123693, essv5438020, essv5408692, essv6313832, essv6154953, essv6091600, essv6589795, essv6526635, essv5903380, essv5894654, essv5497269, essv6496288, essv6157757, essv6053217, essv6554618, essv6329925, essv6323959, essv6022121, essv6557823, essv6058540, essv5961446, essv6324854, essv6532980, essv5570076, essv6417550, essv6444647, essv5529323, essv6145021, essv6495662, essv5577639, essv6183727, essv5696520, essv5764805, essv6101409, essv6261526, essv6428635, essv5635330, essv6578237, essv6062040, essv5689205, essv6324011, essv5610422, essv6519312, essv5851299, essv6074214, essv5424090, essv5997937, essv5930443, essv5609098, essv6437752, essv6333246, essv6352123
SamplesHG00626, HG01060, HG01441, HG01173, HG00592, NA19397, HG00671, HG01052, NA18565, HG01389, HG00315, HG00449, NA12155, NA18602, HG01140, HG00693, HG00327, HG00663, NA19068, NA19660, HG00501, HG00448, NA18618, HG00736, HG00610, HG01354, HG00247, NA19054, HG00334, HG01069, HG00683, HG00335, HG00148, HG00262, NA19719, HG01072, NA18560, HG00534, HG00422, HG00705, HG00160, HG00338, HG00178, HG00530, NA18539, NA18614, HG00154, HG00560, NA18613, NA19657, HG00443, HG00266, HG00176, NA19056, HG00596, HG00328, HG00245, HG00657, NA20536, NA19717, NA19663, HG00584, NA18534, HG00692, HG01390, HG01102, HG01073, HG00250, NA19655, NA18626, HG00690, HG00404, HG00331, HG00684, HG01101, NA18553, HG01334, HG00146, HG00704, HG00463, NA18634, HG01107, NA18541, HG01204, NA18953, NA19003, HG00124, HG00383, NA18535, HG01190, NA18559, HG00565, HG00734, HG00278, HG01174, NA19334, HG00237, NA19311, HG00319, HG01108, HG00662, HG00620, HG00707, HG00672, HG00111, HG00578, HG00478, NA19779, HG00421, HG00329, NA19716, HG00267, NA20510, NA19770, HG00280, NA19726, NA18983, HG01082, HG00628, NA18624
Known GenesDEFB134, DEFB135, DEFB136
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667080
Frequency
Sample Size1151
Observed Gain0
Observed Loss120
Observed Complex0
Frequencyn/a


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