A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737812



Internal ID9972151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141812882..141813834hg38UCSC Ensembl
Outerchr8:142894243..142895195hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38953
hg19953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672242
SamplesSSM031
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)esv2737812
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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