A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009767



Internal ID7074061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25889191..25893216hg38UCSC Ensembl
Outerchr8:25746707..25750732hg19UCSC Ensembl
Outerchr8:25802624..25806649hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383549
hg193549
hg183549
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564426
SamplesHuRef
Known GenesEBF2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009767
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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