A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4862n100



Internal ID22790949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130011844..130092500hg38UCSC Ensembl
chr3:129730687..129811343hg19UCSC Ensembl
chr3:131213377..131294033hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3880657
hg1980657
hg1880657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003186, nsv1010715, nsv998997, nsv1012112, nsv1000926, nsv1001020, nsv1014490, nsv998807, nsv1010792, nsv1006426, nsv1012019, nsv1010491
Samples
Known GenesALG1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4862n100
Frequency
Sample Size11257
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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