A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981448



Internal ID12625446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107935263..108020327hg38UCSC Ensembl
Innerchr11:107805989..107891053hg19UCSC Ensembl
Innerchr11:107311199..107396263hg18UCSC Ensembl
Innerchr11:107311199..107396263hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3885065
hg1985065
hg1885065
hg1785065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750980
Supporting Variants
SamplesBEC_229
Known GenesCUL5, RAB39A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981448
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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