A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv260n54



Internal ID18992436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47416810..47417174hg38UCSC Ensembl
chr1:47882482..47882846hg19UCSC Ensembl
chr1:47655069..47655433hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38365
hg19365
hg18365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546171, nsv546174
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv260n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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