A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8247n54



Internal ID20141671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16559591..16622096hg38UCSC Ensembl
chr3:16601098..16663603hg19UCSC Ensembl
chr3:16576102..16638607hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3862506
hg1962506
hg1862506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589838, nsv589839
Samples
Known GenesDAZL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8247n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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