A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979388



Internal ID12633421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32774578..32982478hg38UCSC Ensembl
Innerchr11:32796124..33004024hg19UCSC Ensembl
Innerchr11:32752700..32960600hg18UCSC Ensembl
Innerchr11:32752700..32960600hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38207901
hg19207901
hg18207901
hg17207901
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979388
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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