A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696257



Internal ID15098076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144767463..144768761hg38UCSC Ensembl
Innerchr8:144767761..144768463hg38UCSC Ensembl
Outerchr8:144766463..144769761hg38UCSC Ensembl
chr8:145992848..145994146hg19UCSC Ensembl
Innerchr8:145993146..145993848hg19UCSC Ensembl
Outerchr8:145991848..145995146hg19UCSC Ensembl
chr8:145963652..145964950hg18UCSC Ensembl
Innerchr8:145964652..145963950hg18UCSC Ensembl
Outerchr8:145962652..145965950hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3323125
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696257
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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