A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11907n54



Internal ID22779802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6968768..6989805hg38UCSC Ensembl
chr8:6826290..6847327hg19UCSC Ensembl
chr8:6813700..6834737hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3821038
hg1921038
hg1821038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610016, nsv610017
Samples
Known GenesDEFA1, DEFA10P, DEFA1B, DEFT1P, DEFT1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11907n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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