A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578961



Internal ID7050343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184159030..184159617hg38UCSC Ensembl
chr3:183876818..183877405hg19UCSC Ensembl
chr3:185359512..185360099hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38588
hg19588
hg18588
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004549
Supporting Variants
SamplesHuRef
Known GenesDVL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578961
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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