A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4873n100



Internal ID22790960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130039363..130137891hg38UCSC Ensembl
chr3:129758206..129856734hg19UCSC Ensembl
chr3:131240896..131339424hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3898529
hg1998529
hg1898529
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004203, nsv1013533
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)dgv4873n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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