A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422413



Internal ID7906510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25116284..25403903hg38UCSC Ensembl
Innerchr22:25512251..25799870hg19UCSC Ensembl
Innerchr22:23842251..24129870hg18UCSC Ensembl
Innerchr22:23836805..24124424hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38287620
hg19287620
hg18287620
hg17287620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24e196
Supporting Variantsessv5161553
SamplesND00700
Known GenesCRYBB2, CRYBB3, IGLL3P, KIAA1671, LRP5L
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422413
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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