A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563614



Internal ID7036374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26769259..26776058hg38UCSC Ensembl
Outerchr22:27165222..27172021hg19UCSC Ensembl
Outerchr22:25495222..25502021hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg386800
hg196800
hg186800
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004142
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563614
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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