A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696093



Internal ID15056353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101361848..101363446hg38UCSC Ensembl
Innerchr8:101362446..101362848hg38UCSC Ensembl
Outerchr8:101360848..101364446hg38UCSC Ensembl
chr8:102374076..102375674hg19UCSC Ensembl
Innerchr8:102374674..102375076hg19UCSC Ensembl
Outerchr8:102373076..102376674hg19UCSC Ensembl
chr8:102443252..102444850hg18UCSC Ensembl
Innerchr8:102444252..102443850hg18UCSC Ensembl
Outerchr8:102442252..102445850hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451802
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696093
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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