A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982672



Internal ID12975359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23689828..23708284hg38UCSC Ensembl
Innerchr22:24032015..24050471hg19UCSC Ensembl
Innerchr22:22362015..22380471hg18UCSC Ensembl
Innerchr22:22356569..22375025hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3818457
hg1918457
hg1818457
hg1718457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751941
Supporting Variants
SamplesBEC_578
Known GenesGUSBP11, RGL4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982672
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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