A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34218



Internal ID12643571
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 StatusM
Merged Variants
Supporting Variantsessv6990210, essv6978214, essv6978213, essv6986562, essv6986563
SamplesNA18980
Known GenesFAM118A, FBLN1, RIBC2, SMC1B, UPK3A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34218
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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