A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736812



Internal ID10320448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28911456..28914123hg38UCSC Ensembl
Outerchr8:28768973..28771640hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg382668
hg192668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683121, essv6782861, essv6737423, essv6680994, essv6970072
SamplesSSM050, SSM028, SSM033, SSM068, SSM005
Known GenesHMBOX1
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)esv2736812
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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