A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4900n100



Internal ID22790987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130088069..130177521hg38UCSC Ensembl
chr3:129806912..129896364hg19UCSC Ensembl
chr3:131289602..131379054hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3889453
hg1989453
hg1889453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014486, nsv1002990, nsv1005800
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)dgv4900n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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