A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870326



Internal ID10266777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128452933..128458998hg38UCSC Ensembl
Outerchr8:129465179..129471244hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386066
hg196066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737575
Supporting Variants
SamplesSSM090
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)essv6870326
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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