A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004712



Internal ID7069808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:128476302..128485660hg38UCSC Ensembl
Outerchr2:129233876..129243234hg19UCSC Ensembl
Outerchr2:128950346..128959704hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389359
hg199359
hg189359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564002
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004712
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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