A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982227



Internal ID12626713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19469523..19751823hg38UCSC Ensembl
Innerchr22:19457046..19739346hg19UCSC Ensembl
Innerchr22:17837046..18119346hg18UCSC Ensembl
Innerchr22:17831600..18113900hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38282301
hg19282301
hg18282301
hg17282301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751940
Supporting Variants
SamplesBEC_404
Known GenesCDC45, CLDN5, GP1BB, LINC00895, SEPT5, SEPT5-GP1BB, UFD1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982227
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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