A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718813



Internal ID9953105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53185869..53188754hg38UCSC Ensembl
Outerchr19:53689122..53692007hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382886
hg192886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764046, essv6921425, essv6905883, essv6832331, essv6721725, essv6717442, essv6729359, essv6933010, essv6846770, essv6909832, essv6756381, essv6885803, essv6769306, essv6824704, essv6792986, essv6917178, essv6925413, essv6667277, essv6689094, essv6674853, essv6877479, essv6784695, essv6835908, essv6928831, essv6950233, essv6773181, essv6807188, essv6744764, essv6967545, essv6961066, essv6946189, essv6812992, essv6692504, essv6713984, essv6707074, essv6941487, essv6804246, essv6814887, essv6735847, essv6785487, essv6753343, essv6880256, essv6902292, essv6738663, essv6883095, essv6820938, essv6788865, essv6782143, essv6839712, essv6717901, essv6843591, essv6780546, essv6892126, essv6913726, essv6874797, essv6696748, essv6801357, essv6971983, essv6901425, essv6741942, essv6747605, essv6816360, essv6710371, essv6761696, essv6898419, essv6828767, essv6871524, essv6858824, essv6750428, essv6666529, essv6954415, essv6703591, essv6868462, essv6733223, essv6948118, essv6915074, essv6874489, essv6766387, essv6842131, essv6682602, essv6678901, essv6937383, essv6758901, essv6810176, essv6863667, essv6668759
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesZNF665
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)esv2718813
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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