A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584299



Internal ID6708995
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002217
Supporting Variants
SamplesHuRef
Known GenesSLC22A31
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584299
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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