A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724096



Internal ID9958397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26772099..26773857hg38UCSC Ensembl
Outerchr22:27168062..27169820hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846826, essv6804283, essv6790154, essv6961172, essv6735879, essv6725628, essv6883135, essv6877538, essv6710419, essv6776752, essv6839773, essv6764078, essv6744804, essv6941544, essv6674940, essv6909875, essv6689124, essv6694676, essv6950310, essv6820987, essv6902334, essv6967622, essv6885840, essv6954476, essv6921503, essv6925488, essv6682650, essv6666628, essv6733294, essv6707116, essv6769347, essv6813034, essv6905933, essv6714047, essv6880301, essv6747098, essv6797238, essv6933072, essv6782854, essv6807228, essv6842575, essv6699461, essv6832387, essv6753379, essv6863737, essv6843678, essv6937445, essv6696804, essv6828815, essv6741986, essv6738692, essv6913781, essv6758934, essv6773237, essv6875219, essv6801430, essv6816412, essv6784752, essv6750471, essv6852932, essv6892170, essv6761738, essv6668795, essv6780629, essv6721801, essv6717961, essv6874560, essv6793062, essv6915473, essv6815476, essv6788919, essv6895672, essv6948562, essv6972052, essv6685999, essv6901462, essv6756416, essv6888863, essv6946256, essv6824760, essv6729419, essv6678959, essv6858904, essv6871574, essv6766419, essv6667766, essv6898468, essv6692566, essv6810214, essv6868541, essv6917230, essv6717854, essv6747649, essv6835978, essv6703645, essv6928889
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known Genes
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)esv2724096
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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