A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1187842



Internal ID5317948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63264908..63264908hg38UCSC Ensembl
chr18:60932141..60932141hg19UCSC Ensembl
chr18:59083121..59083121hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3656441
SamplesHuRef
Known GenesBCL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1187842
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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