A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011324



Internal ID6723412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1272722..1274524hg38UCSC Ensembl
Outerchr5:1272837..1274639hg19UCSC Ensembl
Outerchr5:1325837..1327639hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382952
hg192952
hg182952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564867
SamplesHuRef
Known GenesTERT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011324
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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