A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004567



Internal ID7069664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:132393004..132426988hg38UCSC Ensembl
Outerchr8:133405251..133439235hg19UCSC Ensembl
Outerchr8:133474433..133508417hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3833985
hg1933985
hg1833985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564228
SamplesHuRef
Known GenesKCNQ3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004567
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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