A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv619n100



Internal ID20152235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248496871..248586247hg38UCSC Ensembl
chr1:248660172..248749548hg19UCSC Ensembl
chr1:246726795..246816171hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3889377
hg1989377
hg1889377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007007, nsv1003406
Samples
Known GenesOR2G6, OR2T29, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv619n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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