A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275526



Internal ID348432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124631541..124637627hg38UCSC Ensembl
Outerchr8:124628723..124638412hg38UCSC Ensembl
Innerchr8:125643782..125649868hg19UCSC Ensembl
Outerchr8:125640964..125650653hg19UCSC Ensembl
Innerchr8:125712963..125719049hg18UCSC Ensembl
Outerchr8:125710145..125719834hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg389690
hg199690
hg189690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586184
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)esv275526
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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