A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11982105



Internal ID5841740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95649194..95651730hg38UCSC Ensembl
Innerchr5:95649194..95651730hg38UCSC Ensembl
Outerchr5:95648994..95651933hg38UCSC Ensembl
chr5:94984898..94987434hg19UCSC Ensembl
Innerchr5:94984898..94987434hg19UCSC Ensembl
Outerchr5:94984698..94987637hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382537
hg192537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605834
Supporting Variants
SamplesNA19213
Known GenesRFESD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11982105
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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