A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161378



Internal ID7906092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21789819..22087747hg38UCSC Ensembl
Innerchr22:22144108..22442159hg19UCSC Ensembl
Innerchr22:20474108..20772159hg18UCSC Ensembl
Innerchr22:20468662..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 StatusS
Merged Variantsesv2422295
Supporting Variants
SamplesND04305
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)essv5161378
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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