A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993879



Internal ID6729834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89826094..89833272hg38UCSC Ensembl
Outerchr16:89892502..89899680hg19UCSC Ensembl
Outerchr16:88420003..88427181hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg387179
hg197179
hg187179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564390
SamplesHuRef
Known GenesSPIRE2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993879
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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