A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350281



Internal ID15197263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172484643..172485941hg38UCSC Ensembl
Innerchr5:172484941..172485643hg38UCSC Ensembl
Outerchr5:172483643..172486941hg38UCSC Ensembl
chr5:171911647..171912945hg19UCSC Ensembl
Innerchr5:171911945..171912647hg19UCSC Ensembl
Outerchr5:171910647..171913945hg19UCSC Ensembl
chr5:171844252..171845550hg18UCSC Ensembl
Innerchr5:171845252..171844550hg18UCSC Ensembl
Outerchr5:171843252..171846550hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694641
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350281
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