A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4440n100



Internal ID22790527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45897542..45940630hg38UCSC Ensembl
chr21:47317456..47360544hg19UCSC Ensembl
chr21:46141884..46184972hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3843089
hg1943089
hg1843089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063852, nsv1060235
Samples
Known GenesPCBP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4440n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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