A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989381



Internal ID7060975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29774529..29781046hg38UCSC Ensembl
Outerchr22:30170518..30177035hg19UCSC Ensembl
Outerchr22:28500518..28507035hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386518
hg196518
hg186518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565282
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989381
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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