A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv263n54



Internal ID22768158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47416856..47417352hg38UCSC Ensembl
chr1:47882528..47883024hg19UCSC Ensembl
chr1:47655115..47655611hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546179, nsv546177, nsv546178, nsv546183
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv263n54
Frequency
Sample Size17421
Observed Gain22
Observed Loss9
Observed Complex0
Frequencyn/a


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