A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7781n54



Internal ID22775676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18682124..18718761hg38UCSC Ensembl
chr21:20054442..20091079hg19UCSC Ensembl
chr21:18976313..19012950hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3836638
hg1936638
hg1836638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587144, nsv587149
SamplesHGDP01059, NINDS_271
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7781n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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