A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4861n100



Internal ID20156477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129996982..130196115hg38UCSC Ensembl
chr3:129715825..129914958hg19UCSC Ensembl
chr3:131198515..131397648hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38199134
hg19199134
hg18199134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006138, nsv1012382, nsv1000770, nsv1000973, nsv1009653, nsv1005517, nsv1003423
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)dgv4861n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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