A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694841



Internal ID15086632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68964469..68966567hg38UCSC Ensembl
Innerchr5:68965469..68965567hg38UCSC Ensembl
Outerchr5:68963469..68967567hg38UCSC Ensembl
chr5:68260296..68262394hg19UCSC Ensembl
Innerchr5:68261296..68261394hg19UCSC Ensembl
Outerchr5:68259296..68263394hg19UCSC Ensembl
chr5:68296052..68298150hg18UCSC Ensembl
Innerchr5:68297052..68297150hg18UCSC Ensembl
Outerchr5:68295052..68299150hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345357
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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