A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716528



Internal ID10300164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82764763..82765624hg38UCSC Ensembl
Outerchr17:80722639..80723500hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721417, essv6809940, essv6898174, essv6863248, essv6916837, essv6678566, essv6678568, essv6928566, essv6692228, essv6812747, essv6858343, essv6909557, essv6901170, essv6772833, essv6801033, essv6678567, essv6806929, essv6913118, essv6863249, essv6895317, essv6692229, essv6806928, essv6868069, essv6788544, essv6715488, essv6891873, essv6780209, essv6852379, essv6960547, essv6874215, essv6766188, essv6703233, essv6674359, essv6909558, essv6891874, essv6888584, essv6895316, essv6852380, essv6796814, essv6796813, essv6696363, essv6888585, essv6721418, essv6967014, essv6692177, essv6863250, essv6824364, essv6729044, essv6828436, essv6703234, essv6871273, essv6928565, essv6784367, essv6828437, essv6824366, essv6885571, essv6820537, essv6945074, essv6820536, essv6868067, essv6960548, essv6901169, essv6882855, essv6945813, essv6967013, essv6804028, essv6769071, essv6674361, essv6880021, essv6945063, essv6839380, essv6725240, essv6868068, essv6812748, essv6685677, essv6832031, essv6688879, essv6858344, essv6688878, essv6945814, essv6872198, essv6710113, essv6674360, essv6692188
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM073, SSM093, SSM074, SSM088, SSM002, SSM041, SSM023, SSM090, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM006, SSM068, SSM081, SSM072, SSM078, SSM016, SSM005, SSM080, SSM037, SSM076, SSM091, SSM095, SSM034, SSM099, SSM098, SSM063
Known GenesTBCD
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)esv2716528
Frequency
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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