A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669135



Internal ID9935240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217091168..217092543hg38UCSC Ensembl
chr2:217955891..217957266hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381376
hg191376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6147105, essv5677429, essv6198339, essv6018071, essv6462273, essv6195041, essv6533672, essv6194561, essv5642650, essv5559370, essv5562294, essv6401167, essv5530854, essv5426145, essv5864716, essv6319952, essv5714568, essv5660198, essv5939194, essv5940806, essv6467324, essv5654566, essv6470596, essv6583720, essv5592704, essv6051153, essv6069271, essv5722285, essv5771019, essv6136228, essv5678805, essv6076893, essv6237687, essv5798245, essv5773358, essv5883789, essv5871351, essv6233239, essv6126320, essv6541974, essv6148386, essv6278228, essv6312046, essv6243528, essv6429148, essv5986563, essv5753770, essv5465065, essv6028199, essv5611411, essv6179631, essv6164242, essv6058888, essv6597229, essv6260482, essv6058961, essv6362855, essv6352223, essv6141879, essv5505513, essv6385693, essv5867680, essv5561831, essv5813520, essv6033681, essv5465796, essv6471772, essv5926843, essv5580232, essv5512152, essv6338908, essv5620930, essv6502625, essv5542183, essv6396544, essv6068607, essv5432317, essv5803334, essv6003591, essv5634993
SamplesNA18502, NA12842, NA19703, HG00231, NA18924, NA19466, NA18861, HG01066, NA18917, NA19393, NA18504, NA12058, NA18870, NA20356, NA20806, NA19201, NA19382, NA19315, NA12891, NA19916, HG00736, NA18498, NA20336, NA19904, NA19384, HG01110, NA12282, NA18868, NA19371, NA19207, NA19471, HG01440, HG00160, NA20342, NA20127, HG00253, NA11993, NA19908, NA19247, NA19210, HG00731, NA19437, NA18934, NA12878, HG00190, NA18933, NA20536, NA19455, NA20126, NA19658, NA18499, NA12892, NA19099, HG01334, NA19257, NA19318, NA19395, NA19625, NA12546, NA18909, NA19256, NA19147, NA20276, NA19380, NA19144, NA19376, NA18501, NA19438, NA20334, NA19474, NA19213, HG00372, NA19430, NA19129, HG00171, NA12006, NA18511, NA19429, HG00553, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669135
Frequency
Sample Size1151
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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