A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695002



Internal ID15049941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99522049..99524247hg38UCSC Ensembl
Innerchr5:99523049..99523247hg38UCSC Ensembl
Outerchr5:99521049..99525247hg38UCSC Ensembl
chr5:98857753..98859951hg19UCSC Ensembl
Innerchr5:98858753..98858951hg19UCSC Ensembl
Outerchr5:98856753..98860951hg19UCSC Ensembl
chr5:98885652..98887850hg18UCSC Ensembl
Innerchr5:98886652..98886850hg18UCSC Ensembl
Outerchr5:98884652..98888850hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353357
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695002
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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