A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34742



Internal ID12644092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32774546..32982478hg38UCSC Ensembl
Innerchr11:32796092..33004024hg19UCSC Ensembl
Innerchr11:32752668..32960600hg18UCSC Ensembl
Innerchr11:32752668..32960600hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38207933
hg19207933
hg18207933
hg17207933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986849, essv6979389, essv6990358, essv6979388
SamplesNA18545
Known GenesCCDC73, PRRG4, QSER1
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)esv34742
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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