A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578721



Internal ID6703417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88956970..88957021hg38UCSC Ensembl
chr16:89023378..89023429hg19UCSC Ensembl
chr16:87550879..87550930hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989499
Supporting Variants
SamplesHuRef
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578721
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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