A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980875



Internal ID12635517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323321..25567021hg38UCSC Ensembl
Innerchr22:25719288..25962988hg19UCSC Ensembl
Innerchr22:24049288..24292988hg18UCSC Ensembl
Innerchr22:24043842..24287542hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38243701
hg19243701
hg18243701
hg17243701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34331
Supporting Variants
SamplesNA19139
Known GenesADRBK2, CRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980875
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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