A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982217



Internal ID12973388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:84090927..84129229hg38UCSC Ensembl
Innerchr11:83801970..83840272hg19UCSC Ensembl
Innerchr11:83479618..83517920hg18UCSC Ensembl
Innerchr11:83479618..83517920hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3838303
hg1938303
hg1838303
hg1738303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751034
Supporting Variants
SamplesBEC_404
Known GenesDLG2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982217
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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