A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884733



Internal ID9932879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141437077..141437242hg38UCSC Ensembl
Outerchr8:142447177..142447342hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737756, esv2737783
Supporting Variants
SamplesSSM095
Known GenesMROH5
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)essv6884733
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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