A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978213



Internal ID12634913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45254944..45515710hg38UCSC Ensembl
Innerchr22:45650825..45911590hg19UCSC Ensembl
Innerchr22:44029489..44290254hg18UCSC Ensembl
Innerchr22:43971362..44232127hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38260767
hg19260766
hg18260766
hg17260766
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978213
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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