A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7862n54



Internal ID19000038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42507410..42514553hg38UCSC Ensembl
chr21:43927520..43934663hg19UCSC Ensembl
chr21:42800589..42807732hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387144
hg197144
hg187144
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587639, nsv587638
Samples
Known GenesSLC37A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7862n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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