A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34768



Internal ID12990804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:121581942..121664229hg38UCSC Ensembl
Innerchr11:121452651..121534938hg19UCSC Ensembl
Innerchr11:120957861..121040148hg18UCSC Ensembl
Innerchr11:120957861..121040148hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3882288
hg1982288
hg1882288
hg1782288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990264, essv6978636
SamplesNA12056
Known GenesSORL1
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)esv34768
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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