A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e196



Internal ID20123219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21789819..22087747hg38UCSC Ensembl
chr22:22144108..22442159hg19UCSC Ensembl
chr22:20474108..20772159hg18UCSC Ensembl
chr22:20468662..20766713hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38297929
hg19298052
hg18298052
hg17298052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422295, esv2422277
SamplesND04305, ND05283
Known GenesMAPK1, PPM1F, TOP3B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv20e196
Frequency
Sample Size181
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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