A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001300



Internal ID6713439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89121991..89122127hg38UCSC Ensembl
chr16:89188399..89188535hg19UCSC Ensembl
chr16:87715900..87716036hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38137
hg19137
hg18137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583307
SamplesHuRef
Known GenesACSF3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001300
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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