A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723087



Internal ID10306723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10792590..10799337hg38UCSC Ensembl
Outerchr21:10713120..10719867hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg386748
hg196748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv686e201
Supporting Variantsessv6961298, essv6788994, essv6875753, essv6729483, essv6961301, essv6689162, essv6888902, essv6725702, essv6832450, essv6863807, essv6868609, essv6804318, essv6853045, essv6824829, essv6925560, essv6710480, essv6714105, essv6773324, essv6961300, essv6828875, essv6895737, essv6917290, essv6807277, essv6710481, essv6721856, essv6810253, essv6821052, essv6863812, essv6859017
SamplesSSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM073, SSM074, SSM042, SSM088, SSM041, SSM018, SSM069, SSM096, SSM026, SSM089, SSM035, SSM044, SSM086, SSM081, SSM078, SSM016, SSM080, 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)esv2723087
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer