A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005096



Internal ID6717219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110145458..110148939hg38UCSC Ensembl
Outerchr12:110583263..110586744hg19UCSC Ensembl
Outerchr12:109067646..109071127hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382551
hg192551
hg182551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563792
SamplesHuRef
Known GenesIFT81
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005096
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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