A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653553



Internal ID13672888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47763986..47763986hg38UCSC Ensembl
Innerchr8:47763985..47763987hg38UCSC Ensembl
Outerchr8:47763936..47764036hg38UCSC Ensembl
chr8:48676547..48676547hg19UCSC Ensembl
Innerchr8:48676546..48676548hg19UCSC Ensembl
Outerchr8:48676497..48676597hg19UCSC Ensembl
chr8:48839100..48839100hg18UCSC Ensembl
Innerchr8:48839101..48839099hg18UCSC Ensembl
Outerchr8:48839050..48839150hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38400
hg19400
hg18400
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3407225
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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