A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563792



Internal ID6688175
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005096
Supporting Variants
SamplesHuRef
Known GenesIFT81
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563792
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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