A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566478



Internal ID6691174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4847681..4849021hg38UCSC Ensembl
chr16:4897682..4899022hg19UCSC Ensembl
chr16:4837683..4839023hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381341
hg191341
hg181341
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998381
Supporting Variants
SamplesHuRef
Known GenesUBN1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566478
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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