A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726368



Internal ID3276864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189858068..189858476hg38UCSC Ensembl
Outerchr3:189575857..189576265hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880921, essv6872233, essv6938348, essv6864789, essv6848117, essv6926255, essv6679814, essv6670060, essv6745428, essv6789841, essv6854268, essv6730256, essv6689860, essv6896314, essv6962624, essv6817396, essv6699822, essv6711242, essv6804953, essv6813759, essv6836793, essv6781575, essv6726486, essv6934008, essv6770195, essv6883749, essv6693516, essv6825713, essv6922457, essv6675866, essv6903139, essv6951260, essv6968663, essv6899145, essv6683402, essv6849865, essv6892901, essv6889595, essv6754031, essv6910712, essv6718781, essv6748272, essv6947171, essv6700373, essv6767021, essv6810812, essv6860022, essv6869215, essv6973630, essv6707853, essv6785724, essv6878144, essv6886474
SamplesSSM065, SSM022, SSM027, SSM013, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM099, SSM042, SSM078, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM032, SSM039, SSM024, SSM094, SSM083, SSM097, SSM041, SSM077, SSM093, SSM100, SSM056, SSM011, SSM028, SSM029, SSM095, SSM047, SSM069, SSM021, SSM037, SSM034, SSM087, SSM046, SSM019, SSM096, SSM068, SSM044, SSM074, SSM015, SSM098, SSM018, SSM076, SSM058, SSM070, SSM080
Known GenesTP63
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)esv2726368
Frequency
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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