A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008890



Internal ID6720997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17657148..17667590hg38UCSC Ensembl
Outerchr22:18139914..18150356hg19UCSC Ensembl
Outerchr22:16519914..16530356hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3810443
hg1910443
hg1810443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565549
SamplesHuRef
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008890
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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