A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3851524



Internal ID11563661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1290786..1290870hg38UCSC Ensembl
chr5:1290901..1290985hg19UCSC Ensembl
chr5:1343901..1343985hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1110943
Supporting Variants
SamplesHuRef
Known GenesTERT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3851524
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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