A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563636



Internal ID6688678
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010582
Supporting Variants
SamplesHuRef
Known GenesCACNB4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563636
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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