A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4894n100



Internal ID22790981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130068344..130133008hg38UCSC Ensembl
chr3:129787187..129851851hg19UCSC Ensembl
chr3:131269877..131334541hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3864665
hg1964665
hg1864665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006186, nsv1009356, nsv1000223, nsv1003722, nsv1008798
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)dgv4894n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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