A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4377n100



Internal ID20155993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:12992198..13703148hg38UCSC Ensembl
chr21:14364519..15075469hg19UCSC Ensembl
chr21:13286390..13997340hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38710951
hg19710951
hg18710951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059325, nsv1062761, nsv1057160
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4377n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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