A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584694



Internal ID7056077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52898411..52898530hg38UCSC Ensembl
chr3:52932427..52932546hg19UCSC Ensembl
chr3:52907467..52907586hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38120
hg19120
hg18120
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003441
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584694
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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