A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802040



Internal ID10206864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79760649..79760807hg38UCSC Ensembl
Outerchr3:79809799..79809957hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725556, esv2725558, esv2725557
Supporting Variants
SamplesSSM073
Known GenesROBO1
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)essv6802040
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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