A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8942928



Internal ID13995288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130535493..130535539hg38UCSC Ensembl
Innerchr8:130535504..130535525hg38UCSC Ensembl
Outerchr8:130535458..130535571hg38UCSC Ensembl
chr8:131547739..131547785hg19UCSC Ensembl
Innerchr8:131547750..131547771hg19UCSC Ensembl
Outerchr8:131547704..131547817hg19UCSC Ensembl
chr8:131616921..131616967hg18UCSC Ensembl
Innerchr8:131616953..131616932hg18UCSC Ensembl
Outerchr8:131616886..131616999hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442604
Supporting Variants
SamplesNA18545
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8942928
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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