A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696281



Internal ID15057151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29860594..29862992hg38UCSC Ensembl
Innerchr8:29861594..29861992hg38UCSC Ensembl
Outerchr8:29859594..29863992hg38UCSC Ensembl
chr8:29718110..29720508hg19UCSC Ensembl
Innerchr8:29719110..29719508hg19UCSC Ensembl
Outerchr8:29717110..29721508hg19UCSC Ensembl
chr8:29837652..29840050hg18UCSC Ensembl
Innerchr8:29838652..29839050hg18UCSC Ensembl
Outerchr8:29836652..29841050hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337711
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696281
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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