A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002217



Internal ID6714351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89196259..89196339hg38UCSC Ensembl
chr16:89262667..89262747hg19UCSC Ensembl
chr16:87790168..87790248hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584299
SamplesHuRef
Known GenesSLC22A31
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002217
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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