A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905085



Internal ID9639074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141334782..141335522hg38UCSC Ensembl
Outerchr8:142344881..142345621hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737770, esv2737756
Supporting Variants
SamplesSSM002
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)essv6905085
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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