A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726275



Internal ID10309911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:180860037..180860231hg38UCSC Ensembl
Outerchr3:180577825..180578019hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860005, essv6918102, essv6817382
SamplesSSM088, SSM017, 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)esv2726275
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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