A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410533



Internal ID15257493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78901291..78901430hg38UCSC Ensembl
Innerchr8:78901291..78901430hg38UCSC Ensembl
Outerchr8:78900622..78901851hg38UCSC Ensembl
chr8:79813526..79813665hg19UCSC Ensembl
Innerchr8:79813526..79813665hg19UCSC Ensembl
Outerchr8:79812857..79814086hg19UCSC Ensembl
chr8:79976081..79976220hg18UCSC Ensembl
Innerchr8:79976081..79976220hg18UCSC Ensembl
Outerchr8:79975412..79976641hg18UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652414
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410533
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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