A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4078n100



Internal ID19014446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131191122..131451608hg38UCSC Ensembl
chr2:131948695..132209181hg19UCSC Ensembl
chr2:131665165..131925651hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38260487
hg19260487
hg18260487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013652, nsv1011518
Samples
Known GenesLINC01120, LOC401010, LOC440910, POTEE, RNU6-81P, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4078n100
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