A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737477



Internal ID10321113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117861556..117863413hg38UCSC Ensembl
Outerchr8:118873795..118875652hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381858
hg191858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893932, essv6752135, essv6904930
SamplesSSM002, SSM057, SSM012
Known GenesEXT1
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)esv2737477
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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