A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585623



Internal ID6710319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33355629..33355779hg38UCSC Ensembl
chr22:33751615..33751765hg19UCSC Ensembl
chr22:32081615..32081765hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38151
hg19151
hg18151
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994298
Supporting Variants
SamplesHuRef
Known GenesLARGE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585623
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer