A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345357



Internal ID15192341
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 StatusM
Merged Variantsdgv3307e59
Supporting Variantsessv8694841
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer