A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983326



Internal ID12976118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:115623176..115870866hg38UCSC Ensembl
Innerchr11:115493894..115741584hg19UCSC Ensembl
Innerchr11:114999104..115246794hg18UCSC Ensembl
Innerchr11:114999104..115246794hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38247691
hg19247691
hg18247691
hg17247691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750981
Supporting Variants
SamplesBEC_639
Known GenesLINC00900
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983326
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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