A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12406n54



Internal ID22780301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143211426..143213907hg38UCSC Ensembl
chr8:144292834..144295782hg19UCSC Ensembl
chr8:144364209..144367157hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382482
hg192949
hg182949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612741, nsv612750
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12406n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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