A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4868n100



Internal ID22790955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130035080..130100783hg38UCSC Ensembl
chr3:129753923..129819626hg19UCSC Ensembl
chr3:131236613..131302316hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3865704
hg1965704
hg1865704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010344, nsv1008075, nsv999498, nsv1012333, nsv1005308
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4868n100
Frequency
Sample Size11257
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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