A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1518058



Internal ID12334494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41411883..41411969hg38UCSC Ensembl
chr5:41411985..41412071hg19UCSC Ensembl
chr5:41447742..41447828hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3838882
SamplesHuRef
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1518058
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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