A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737899



Internal ID10321535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142501809..142502087hg38UCSC Ensembl
Outerchr8:143583170..143583448hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684626, essv6850322, essv6808966
SamplesSSM075, SSM086, SSM034
Known GenesBAI1
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)esv2737899
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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