A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726181



Internal ID10309817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169191134..169192022hg38UCSC Ensembl
Outerchr3:168908922..168909810hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973593, essv6789855, essv6693493, essv6922432
SamplesSSM009, SSM018, SSM029, SSM037
Known GenesMECOM
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)esv2726181
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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