A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4383n100



Internal ID22790470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13197951..13883095hg38UCSC Ensembl
chr21:14570272..15255416hg19UCSC Ensembl
chr21:13492143..14177287hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38685145
hg19685145
hg18685145
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057395, nsv1057563, nsv1064893, nsv1067546
Samples
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4383n100
Frequency
Sample Size11257
Observed Gain7
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer