A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958286



Internal ID9720142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141871440..141872055hg38UCSC Ensembl
Outerchr8:142952801..142953416hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737756, esv2737815
Supporting Variants
SamplesSSM026
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)essv6958286
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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