A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv187n54



Internal ID22768082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22563965..22564649hg38UCSC Ensembl
chr1:22890458..22891142hg19UCSC Ensembl
chr1:22763045..22763729hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38685
hg19685
hg18685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545765, nsv545764, nsv545767
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv187n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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