A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004418



Internal ID7069515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7162402..7168863hg38UCSC Ensembl
Outerchr5:7162515..7168976hg19UCSC Ensembl
Outerchr5:7215515..7221976hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg386462
hg196462
hg186462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565797
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004418
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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