A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430899



Internal ID15277855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128286574..128286574hg38UCSC Ensembl
Innerchr8:128286573..128286575hg38UCSC Ensembl
Outerchr8:128286524..128286624hg38UCSC Ensembl
chr8:129298820..129298820hg19UCSC Ensembl
Innerchr8:129298819..129298821hg19UCSC Ensembl
Outerchr8:129298770..129298870hg19UCSC Ensembl
chr8:129368002..129368002hg18UCSC Ensembl
Innerchr8:129368003..129368001hg18UCSC Ensembl
Outerchr8:129367952..129368052hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741325
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430899
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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