A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581893



Internal ID6706589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26772109..26773834hg38UCSC Ensembl
chr22:27168072..27169797hg19UCSC Ensembl
chr22:25498072..25499797hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996135
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581893
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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