A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275001



Internal ID347907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124572292..124572687hg38UCSC Ensembl
Outerchr8:124572234..124581353hg38UCSC Ensembl
Innerchr8:125584533..125584928hg19UCSC Ensembl
Outerchr8:125584475..125593594hg19UCSC Ensembl
Innerchr8:125653714..125654109hg18UCSC Ensembl
Outerchr8:125653656..125662775hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg389120
hg199120
hg189120
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585838, essv2585826
Samples
Known GenesMTSS1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275001
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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