A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998150



Internal ID7081553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47606081..47616441hg38UCSC Ensembl
Outerchr22:48001830..48012190hg19UCSC Ensembl
Outerchr22:46380494..46390854hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3810361
hg1910361
hg1810361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564736
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998150
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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