A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10242n54



Internal ID22778137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180692918..180786878hg38UCSC Ensembl
chr5:180119918..180213878hg19UCSC Ensembl
chr5:180052524..180146484hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3893961
hg1993961
hg1893961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600671, nsv600672
Samples
Known GenesOR2Y1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10242n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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