A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988054



Internal ID7060354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174606535..174614113hg38UCSC Ensembl
Outerchr5:174033538..174041116hg19UCSC Ensembl
Outerchr5:173966144..173973722hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg387579
hg197579
hg187579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565621
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988054
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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