A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8256n54



Internal ID22776151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21199656..21328094hg38UCSC Ensembl
chr3:21241148..21369586hg19UCSC Ensembl
chr3:21216152..21344590hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38128439
hg19128439
hg18128439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589888, nsv589891, nsv589892, nsv589894, nsv589893, nsv589889, nsv589884
SamplesHGDP00695, NINDS_21, HGDP01063, HGDP01067, HGDP00729, NINDS_96
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8256n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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