A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912022



Internal ID10022328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:135983050..135983696hg38UCSC Ensembl
Outerchr8:136995293..136995939hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737653
Supporting Variants
SamplesSSM015
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)essv6912022
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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