A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984025



Internal ID12630867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25388479..25519879hg38UCSC Ensembl
Innerchr22:25784446..25915846hg19UCSC Ensembl
Innerchr22:24114446..24245846hg18UCSC Ensembl
Innerchr22:24109000..24240400hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38131401
hg19131401
hg18131401
hg17131401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751962
Supporting Variants
SamplesBEC_745
Known GenesCRYBB2P1, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984025
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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