A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565207



Internal ID7036589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44863859..44869902hg38UCSC Ensembl
Outerchr22:45259739..45265782hg19UCSC Ensembl
Outerchr22:43638403..43644446hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg386044
hg196044
hg186044
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991191
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565207
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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