A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1748n54



Internal ID22769643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:38071118..38318734hg38UCSC Ensembl
chr11:38092668..38340284hg19UCSC Ensembl
chr11:38049244..38296860hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38247617
hg19247617
hg18247617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv554027, nsv554026, nsv554023, nsv554024, nsv554025
SamplesNINDS_103
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1748n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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