A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736726



Internal ID9971058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19479735..19479812hg38UCSC Ensembl
Outerchr8:19337246..19337323hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866316
SamplesSSM089
Known GenesCSGALNACT1
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)esv2736726
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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