A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736748



Internal ID9971080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22588964..22589318hg38UCSC Ensembl
Outerchr8:22446477..22446831hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827026
SamplesSSM080
Known GenesPDLIM2
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)esv2736748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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