A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990358



Internal ID12633412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32774546..32901354hg38UCSC Ensembl
Innerchr11:32796092..32922900hg19UCSC Ensembl
Innerchr11:32752668..32879476hg18UCSC Ensembl
Innerchr11:32752668..32879476hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38126809
hg19126809
hg18126809
hg17126809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34742
Supporting Variants
SamplesNA18545
Known GenesCCDC73, PRRG4, QSER1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990358
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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