A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823086



Internal ID9877573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141107608..141107812hg38UCSC Ensembl
Outerchr8:142117707..142117911hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737759, esv2737756
Supporting Variants
SamplesSSM079
Known Genes
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)essv6823086
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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