A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564770



Internal ID7035870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36743715..36747920hg38UCSC Ensembl
Outerchr22:37139760..37143964hg19UCSC Ensembl
Outerchr22:35469706..35473910hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384206
hg194205
hg184205
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988761
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564770
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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