A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415832



Internal ID15262791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56470939..56471737hg38UCSC Ensembl
Innerchr8:56470938..56471738hg38UCSC Ensembl
Outerchr8:56469939..56472737hg38UCSC Ensembl
chr8:57383498..57384296hg19UCSC Ensembl
Innerchr8:57383497..57384297hg19UCSC Ensembl
Outerchr8:57382498..57385296hg19UCSC Ensembl
chr8:57546052..57546850hg18UCSC Ensembl
Innerchr8:57546851..57546051hg18UCSC Ensembl
Outerchr8:57545052..57547850hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696313
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415832
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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