A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7904n54



Internal ID20141328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45510528..45517044hg38UCSC Ensembl
chr21:46930442..46936958hg19UCSC Ensembl
chr21:45754870..45761386hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386517
hg196517
hg186517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587860, nsv587861
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7904n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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