A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994978



Internal ID7079513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52977239..52978642hg38UCSC Ensembl
Outerchr5:52273069..52274472hg19UCSC Ensembl
Outerchr5:52308826..52310229hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385860
hg195860
hg185860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564000
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994978
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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