A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925759



Internal ID9688581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91766719..91767771hg38UCSC Ensembl
Outerchr1:92232276..92233328hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714795, esv2714684
Supporting Variants
SamplesSSM019
Known GenesTGFBR3
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)essv6925759
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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