A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726333



Internal ID10309969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186125821..186126412hg38UCSC Ensembl
Outerchr3:185843610..185844201hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv785e201
Supporting Variantsessv6777558, essv6929778, essv6880915, essv6864785, essv6764601, essv6860015, essv6817391
SamplesSSM088, SSM089, SSM094, SSM067, SSM020, SSM078, SSM063
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)esv2726333
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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