A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161289



Internal ID8252642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16413817..16696458hg38UCSC Ensembl
Innerchr22:16894543..17177348hg19UCSC Ensembl
Innerchr22:15274543..15557348hg18UCSC Ensembl
Innerchr22:15269097..15551902hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38282642
hg19282806
hg18282806
hg17282806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422342
Supporting Variants
SamplesND00706
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161289
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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