A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986563



Internal ID12634916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45264213..45507977hg38UCSC Ensembl
Innerchr22:45660094..45903857hg19UCSC Ensembl
Innerchr22:44038758..44282521hg18UCSC Ensembl
Innerchr22:43980631..44224394hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38243765
hg19243764
hg18243764
hg17243764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34218
Supporting Variants
SamplesNA18980
Known GenesFAM118A, FBLN1, RIBC2, SMC1B, UPK3A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986563
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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