A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737781



Internal ID9972120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141395367..141395944hg38UCSC Ensembl
Outerchr8:142405467..142406044hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805972, essv6720161, essv6767142, essv6757875
SamplesSSM059, SSM008, SSM074, SSM044
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)esv2737781
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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