A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807867



Internal ID10212154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640109..126640408hg38UCSC Ensembl
Outerchr3:126358952..126359251hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725874
Supporting Variants
SamplesSSM075
Known GenesTXNRD3
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)essv6807867
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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