A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12055n54



Internal ID19004231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22094715..22158340hg38UCSC Ensembl
chr8:21952226..22015853hg19UCSC Ensembl
chr8:22008172..22071798hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3863626
hg1963628
hg1863627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610769, nsv610768
SamplesHGDP00961, HGDP00784
Known GenesFAM160B2, HR, LGI3, NUDT18, REEP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12055n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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