A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723610



Internal ID9957910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550430..43553415hg38UCSC Ensembl
Outerchr21:44970311..44973296hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718073, essv6797357, essv6853117, essv6863858, essv6816506, essv6950453, essv6780766, essv6832501, essv6699536, essv6917343, essv6902450, essv6913919, essv6885932, essv6816198, essv6821102, essv6880381, essv6733424, essv6909978, essv6756498, essv6946400, essv6810295, essv6859092, essv6703773, essv6773359, essv6892245, essv6941692, essv6695354, essv6933215, essv6759001, essv6877624, essv6696937, essv6801551, essv6725755, essv6714152, essv6783965, essv6784896, essv6682766, essv6804352, essv6967814, essv6921634, essv6761816, essv6828922, essv6668722, essv6925612, essv6742088, essv6766490, essv6729534, essv6679072, essv6753449, essv6874648, essv6928982, essv6721915, essv6735942, essv6747798, essv6750551, essv6666829, essv6949596, essv6901547, essv6895781, essv6843321, essv6675114, essv6764129, essv6738757, essv6954608, essv6744894, essv6961387, essv6769437, essv6797709, essv6813112, essv6937582, essv6843812, essv6807322, essv6846912, essv6876141, essv6776841, essv6824889, essv6707211, essv6868659, essv6689202, essv6710516, essv6747729, essv6883204, essv6839879, essv6692678, essv6898552, essv6972212, essv6668853, essv6718442, essv6871662, essv6888946
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, 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, SSM021, SSM037, 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, SSM080
Known GenesHSF2BP
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)esv2723610
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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