A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580074



Internal ID7051456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179901192..179901243hg38UCSC Ensembl
chr3:179618980..179619031hg19UCSC Ensembl
chr3:181101674..181101725hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009120
Supporting Variants
SamplesHuRef
Known GenesPEX5L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580074
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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