A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv186n54



Internal ID22768081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22563965..22564422hg38UCSC Ensembl
chr1:22890458..22890915hg19UCSC Ensembl
chr1:22763045..22763502hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38458
hg19458
hg18458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545763, nsv545762
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv186n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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