A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726334



Internal ID10309970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186125879..186126311hg38UCSC Ensembl
Outerchr3:185843668..185844100hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv785e201
Supporting Variantsessv6777558, essv6880915, essv6860015, essv6817391
SamplesSSM088, SSM094, SSM067, SSM078
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)esv2726334
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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