A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7871n54



Internal ID20141295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43407646..43450270hg38UCSC Ensembl
chr21:44827526..44870150hg19UCSC Ensembl
chr21:43651954..43694578hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3842625
hg1942625
hg1842625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587681, nsv587685, nsv587682
Samples1780862093_A
Known GenesLINC00319, SIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7871n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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