A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010582



Internal ID6722672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151835724..151845268hg38UCSC Ensembl
Outerchr2:152692238..152701782hg19UCSC Ensembl
Outerchr2:152400484..152410028hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg389545
hg199545
hg189545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563636
SamplesHuRef
Known GenesCACNB4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010582
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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