A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4275n100



Internal ID20155891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14916944..14994037hg38UCSC Ensembl
chr20:14897590..14974683hg19UCSC Ensembl
chr20:14845590..14922683hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3877094
hg1977094
hg1877094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062237, nsv1065646, nsv1065202, nsv1065527
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4275n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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