A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4860n100



Internal ID20156476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129963200..130089956hg38UCSC Ensembl
chr3:129682043..129808799hg19UCSC Ensembl
chr3:131164733..131291489hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38126757
hg19126757
hg18126757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997757, nsv998600, nsv1007305, nsv1002177, nsv1015134
Samples
Known GenesALG1L2, TRH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4860n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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