A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007500



Internal ID6719614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88956987..88957038hg38UCSC Ensembl
chr16:89023395..89023446hg19UCSC Ensembl
chr16:87550896..87550947hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579299
SamplesHuRef
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007500
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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