A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564652



Internal ID6689348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19183237..19186643hg38UCSC Ensembl
Outerchr22:19170750..19174155hg19UCSC Ensembl
Outerchr22:17550750..17554155hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383407
hg193406
hg183406
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007063
Supporting Variants
SamplesHuRef
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564652
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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