A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726369



Internal ID3276865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189878754..189879027hg38UCSC Ensembl
Outerchr3:189596543..189596816hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722647, essv6699833
SamplesSSM006, SSM045
Known GenesTP63
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)esv2726369
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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