A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11943n54



Internal ID20145367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8892480..8893832hg38UCSC Ensembl
chr8:8749990..8751342hg19UCSC Ensembl
chr8:8787400..8788752hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381353
hg191353
hg181353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610195, nsv610203, nsv610202, nsv610198
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11943n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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