A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726348



Internal ID10309984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187108841..187109184hg38UCSC Ensembl
Outerchr3:186826629..186826972hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810808, essv6704422, essv6869213, essv6686696, essv6906815, essv6872230, essv6807915, essv6683397, essv6829605, essv6903137, essv6938346, essv6802105, essv6899140, essv6892897, essv6973626, essv6722642, essv6860018, essv6880917, essv6947167, essv6821815, essv6770191, essv6962621, essv6711238, essv6848114, essv6675862, essv6813752, essv6789837, essv6785720, essv6896311, essv6864788, essv6922454, essv6689857, essv6942590, essv6781571, essv6670058, essv6849832, essv6707849, essv6878141, essv6825708, essv6817393, essv6854263, essv6730251, essv6955899, essv6777561
SamplesSSM100, SSM036, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM090, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM068, SSM081, SSM040, SSM078, SSM080, SSM077, SSM076, SSM022, SSM091, SSM070, 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)esv2726348
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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