A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986547



Internal ID12631957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254679..25523779hg38UCSC Ensembl
Innerchr22:25650646..25919746hg19UCSC Ensembl
Innerchr22:23980646..24249746hg18UCSC Ensembl
Innerchr22:23975200..24244300hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38269101
hg19269101
hg18269101
hg17269101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34404
Supporting Variants
SamplesNA11839
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986547
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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