A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1351946



Internal ID12168382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1289652..1289862hg38UCSC Ensembl
chr5:1289767..1289977hg19UCSC Ensembl
chr5:1342767..1342977hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38211
hg19211
hg18211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3857570
SamplesHuRef
Known GenesTERT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1351946
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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