A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694970



Internal ID15016003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8208139..8209637hg38UCSC Ensembl
Innerchr5:8208637..8209139hg38UCSC Ensembl
Outerchr5:8207139..8210637hg38UCSC Ensembl
chr5:8208252..8209750hg19UCSC Ensembl
Innerchr5:8208750..8209252hg19UCSC Ensembl
Outerchr5:8207252..8210750hg19UCSC Ensembl
chr5:8261252..8262750hg18UCSC Ensembl
Innerchr5:8262252..8261750hg18UCSC Ensembl
Outerchr5:8260252..8263750hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360637
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694970
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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