A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724066



Internal ID9958367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23931925..23969103hg38UCSC Ensembl
Outerchr22:24274112..24311292hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3837179
hg1937181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835971, essv6880295, essv6707112, essv6843671, essv6810209, essv6733290, essv6917226, essv6892165, essv6950305, essv6954470, essv6747031, essv6741982, essv6972045, essv6807225, essv6784745, essv6895666, essv6815388, essv6764072, essv6967619, essv6875186, essv6925479, essv6915440, essv6913775, essv6674933, essv6666621, essv6714039, essv6863733, essv6725622, essv6782765, essv6937439, essv6905925, essv6902331, essv6744801, essv6874556, essv6761734, essv6756414, essv6885837, essv6888859, essv6871568, essv6738690, essv6828813, essv6858899, essv6696797, essv6710416, essv6948518, essv6682649, essv6766416, essv6839767, essv6776750, essv6842531, essv6729412, essv6689119, essv6898463, essv6717821, essv6769340, essv6699459, essv6933071, essv6901460, essv6846819, essv6921499, essv6735874, essv6789487, essv6852921, essv6773230, essv6941539, essv6824758, essv6753377, essv6793054, essv6758930, essv6685993, essv6667711, essv6909867, essv6668791, essv6801426, essv6747646, essv6961166, essv6868536, essv6703642, essv6797229, essv6928882, essv6804279, essv6877531
SamplesSSM100, SSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM080, SSM037, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM052, SSM098, SSM049, SSM030, SSM063, SSM012
Known GenesDDTL, GSTT2, GSTT2B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724066
Frequency
Sample Size96
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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