A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4869n100



Internal ID22790956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130035080..130109235hg38UCSC Ensembl
chr3:129753923..129828078hg19UCSC Ensembl
chr3:131236613..131310768hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3874156
hg1974156
hg1874156
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010845, nsv997376, nsv1004680, nsv1007349
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)dgv4869n100
Frequency
Sample Size11257
Observed Gain51
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer