A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732468



Internal ID10316104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:98941271..98943168hg38UCSC Ensembl
Outerchr6:99389147..99391044hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808491
SamplesSSM075
Known GenesFBXL4
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)esv2732468
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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