A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24e196



Internal ID20123223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25116284..25403903hg38UCSC Ensembl
chr22:25512251..25799870hg19UCSC Ensembl
chr22:23842251..24129870hg18UCSC Ensembl
chr22:23836805..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 Variants
Supporting Variantsesv2422255, esv2422380, esv2422413, esv2422293, esv2422356
SamplesND00700, ND05093, ND01754, ND00940, ND05370
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)dgv24e196
Frequency
Sample Size181
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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