A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583427



Internal ID6708123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42989602..42989929hg38UCSC Ensembl
chr3:43031094..43031421hg19UCSC Ensembl
chr3:43006098..43006425hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38328
hg19328
hg18328
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005787
Supporting Variants
SamplesHuRef
Known GenesFAM198A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583427
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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