A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008339



Internal ID7058734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:72247997..72249524hg38UCSC Ensembl
Outerchr5:71543824..71545351hg19UCSC Ensembl
Outerchr5:71579580..71581107hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg385793
hg195793
hg185793
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564094
SamplesHuRef
Known GenesMRPS27
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008339
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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