A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4032n100



Internal ID20155648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99364388..99481422hg38UCSC Ensembl
chr2:99980851..100097884hg19UCSC Ensembl
chr2:99347283..99464316hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38117035
hg19117034
hg18117034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014604, nsv1006625
Samples
Known GenesEIF5B, REV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4032n100
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