A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726309



Internal ID10309945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184617072..184617509hg38UCSC Ensembl
Outerchr3:184334860..184335297hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699777, essv6821465, essv6955539, essv6844422, essv6736489, essv6748267, essv6918106, essv6739406, essv6841375, essv6909484, essv6770186
SamplesSSM065, SSM050, SSM002, SSM017, SSM001, SSM006, SSM085, SSM010, SSM004, SSM052, SSM056
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)esv2726309
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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