A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432543



Internal ID14932813
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 StatusM
Merged Variants
Supporting Variantsessv8694574
SamplesNA19239
Known GenesTERT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432543
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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