A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3798999



Internal ID11616186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1273492..1273746hg38UCSC Ensembl
chr5:1273607..1273861hg19UCSC Ensembl
chr5:1326607..1326861hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38255
hg19255
hg18255
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1162125
Supporting Variants
SamplesHuRef
Known GenesTERT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3798999
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