A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv108n54



Internal ID22768003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11749358..11751216hg38UCSC Ensembl
chr1:11809415..11811273hg19UCSC Ensembl
chr1:11732002..11733860hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381859
hg191859
hg181859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545422, nsv545423
Samples
Known GenesAGTRAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv108n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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