A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731933



Internal ID9966251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37373107..37375624hg38UCSC Ensembl
Outerchr6:37340883..37343400hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382518
hg192518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6778212
SamplesSSM067
Known GenesRNF8
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)esv2731933
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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