A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994899



Internal ID7079434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:9116629..9124847hg38UCSC Ensembl
Outerchr5:9116741..9124959hg19UCSC Ensembl
Outerchr5:9169741..9177959hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg388219
hg198219
hg188219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565397
SamplesHuRef
Known GenesSEMA5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994899
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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