A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003991



Internal ID29694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189645606..189653434hg38UCSC Ensembl
Outerchr3:189363395..189371223hg19UCSC Ensembl
Outerchr3:190846089..190853917hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387829
hg197829
hg187829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564003
SamplesHuRef
Known GenesTP63
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003991
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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