A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988619



Internal ID38209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42519630..42525615hg38UCSC Ensembl
Outerchr8:42377151..42380755hg19UCSC Ensembl
Outerchr8:42496308..42499912hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382804
hg192804
hg182804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564325
SamplesHuRef
Known GenesSLC20A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988619
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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