A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563509



Internal ID6688864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56481..68287hg38UCSC Ensembl
Outerchr16:106481..118285hg19UCSC Ensembl
Outerchr16:46481..58285hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811807
hg1911805
hg1811805
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988339
Supporting Variants
SamplesHuRef
Known GenesRHBDF1, SNRNP25
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563509
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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