A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv185n54



Internal ID22768080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22563949..22564630hg38UCSC Ensembl
chr1:22890442..22891123hg19UCSC Ensembl
chr1:22763029..22763710hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545761, nsv545766
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv185n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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