A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992285



Internal ID7077959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147464246..147475240hg38UCSC Ensembl
Outerchr5:146843809..146854803hg19UCSC Ensembl
Outerchr5:146824002..146834996hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3810995
hg1910995
hg1810995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563887
SamplesHuRef
Known GenesDPYSL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992285
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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