A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004886



Internal ID30589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63264903..63264907hg38UCSC Ensembl
chr18:60932136..60932140hg19UCSC Ensembl
chr18:59083116..59083120hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571885
SamplesHuRef
Known GenesBCL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004886
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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