A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736284



Internal ID9970616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1603498..1603744hg38UCSC Ensembl
Outerchr8:1551664..1551910hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894041
SamplesSSM098
Known GenesDLGAP2, LOC100507435
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)esv2736284
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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