A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716829



Internal ID10300465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120133338..120134120hg38UCSC Ensembl
Outerchr1:120675909..120676691hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859301, essv6898687, essv6864076, essv6832680, essv6910142, essv6821279, essv6840057, essv6906192, essv6789242, essv6871788, essv6801695, essv6954890, essv6697051, essv6889091, essv6937761, essv6777015, essv6692869, essv6682910, essv6703928, essv6950646, essv6710671, essv6804481, essv6836274, essv6689338, essv6886057, essv6950962, essv6914071, essv6699695, essv6917451, essv6925776, essv6877734, essv6766617, essv6797550, essv6780973, essv6853381, essv6714334, essv6825078, essv6718243, essv6719564, essv6883316, essv6785476, essv6877543, essv6707336, essv6968025, essv6675294, essv6679260, essv6722079, essv6941881, essv6847164, essv6844654, essv6843964
SamplesSSM100, SSM036, SSM083, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM096, SSM026, SSM089, SSM019, SSM032, SSM003, SSM067, SSM044, SSM014, SSM086, SSM033, SSM085, SSM068, SSM040, SSM072, SSM082, SSM007, SSM015, SSM016, SSM080, SSM037, SSM022, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM012
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)esv2716829
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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