A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv264n54



Internal ID18992440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47416966..47417352hg38UCSC Ensembl
chr1:47882638..47883024hg19UCSC Ensembl
chr1:47655225..47655611hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38387
hg19387
hg18387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546187, nsv546180, nsv546185, nsv546181, nsv546186, nsv546182
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv264n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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