A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694574



Internal ID14698951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1283737..1285335hg38UCSC Ensembl
Innerchr5:1284335..1284737hg38UCSC Ensembl
Outerchr5:1282737..1286335hg38UCSC Ensembl
chr5:1283852..1285450hg19UCSC Ensembl
Innerchr5:1284450..1284852hg19UCSC Ensembl
Outerchr5:1282852..1286450hg19UCSC Ensembl
chr5:1336852..1338450hg18UCSC Ensembl
Innerchr5:1337852..1337450hg18UCSC Ensembl
Outerchr5:1335852..1339450hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432543
Supporting Variants
SamplesNA19239
Known GenesTERT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694574
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