A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750440



Internal ID10331410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:81222099..81222420hg38UCSC Ensembl
Outerchr1:81687784..81688105hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722054, essv6669687, essv6853326, essv6889060, essv6816657, essv6703906, essv6972458, essv6921787, essv6821248, essv6797515, essv6864028, essv6954842, essv6780942, essv6810385, essv6785053, essv6682877, essv6669047, essv6804451, essv6906154, essv6789214, essv6892378, essv6847111, essv6675259, essv6844354, essv6807423, essv6898652, essv6686202, essv6825041, essv6886026, essv6877703, essv6961657, essv6793356, essv6880468, essv6883296, essv6718212, essv6692838, essv6836241, essv6941852, essv6859260, essv6707304, essv6895892
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM045, SSM011, SSM079, SSM087, SSM097, SSM093, SSM074, SSM088, SSM041, SSM023, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM068, SSM040, SSM072, SSM078, SSM005, SSM080, SSM037, SSM076, SSM070, SSM095, SSM034, SSM099, SSM098
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)esv2750440
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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