A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3293829



Internal ID10966809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42628453..42631132hg38UCSC Ensembl
Outerchr5:42628555..42631234hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382680
hg192680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7563396
SamplesHuRef
Known GenesGHR
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3293829
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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