A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008791



Internal ID7073654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130014794..130024663hg38UCSC Ensembl
Outerchr12:130499339..130509208hg19UCSC Ensembl
Outerchr12:129065292..129075161hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg389870
hg199870
hg189870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565538
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008791
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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