A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750983



Internal ID12637849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132954476..133404017hg38UCSC Ensembl
Innerchr11:132824371..133273912hg19UCSC Ensembl
Innerchr11:132329581..132779122hg18UCSC Ensembl
Innerchr11:132329581..132779122hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38449542
hg19449542
hg18449542
hg17449542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54e55
Supporting Variantsessv6983826, essv6983827, essv6987432
SamplesBEC_631
Known GenesOPCML
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)esv2750983
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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