A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3869n100



Internal ID22789956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73625398..73695962hg38UCSC Ensembl
chr2:73852525..73923089hg19UCSC Ensembl
chr2:73706033..73776597hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3870565
hg1970565
hg1870565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011488, nsv1008311
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3869n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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