A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750980



Internal ID12637846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107850215..108100259hg38UCSC Ensembl
Innerchr11:107720941..107970986hg19UCSC Ensembl
Innerchr11:107226151..107476196hg18UCSC Ensembl
Innerchr11:107226151..107476196hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38250045
hg19250046
hg18250046
hg17250046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985575, essv6981447, essv6981448
SamplesBEC_229
Known GenesCUL5, RAB39A, SLC35F2
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)esv2750980
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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