A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3866n100



Internal ID22789953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73612928..73669476hg38UCSC Ensembl
chr2:73840055..73896603hg19UCSC Ensembl
chr2:73693563..73750111hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3856549
hg1956549
hg1856549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006235, nsv1015036
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)dgv3866n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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