A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002716



Internal ID6714850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135048973..135054286hg38UCSC Ensembl
Outerchr5:134384663..134389976hg19UCSC Ensembl
Outerchr5:134412562..134417875hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385314
hg195314
hg185314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564143
SamplesHuRef
Known GenesC5orf66
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002716
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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