A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4430n100



Internal ID19014798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38638035..38659757hg38UCSC Ensembl
chr21:40009959..40031681hg19UCSC Ensembl
chr21:38931829..38953551hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3821723
hg1921723
hg1821723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055287, nsv1058663
Samples
Known GenesERG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4430n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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