A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4219358



Internal ID11501896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88956991..88957043hg38UCSC Ensembl
chr16:89023399..89023451hg19UCSC Ensembl
chr16:87550900..87550952hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1293084
Supporting Variants
SamplesHuRef
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4219358
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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