A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3608n100



Internal ID19013976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46757741..46865807hg38UCSC Ensembl
chr19:47260998..47369064hg19UCSC Ensembl
chr19:51952838..52060904hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38108067
hg19108067
hg18108067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064760, nsv1062941
Samples
Known GenesAP2S1, FKRP, SLC1A5, SNAR-E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3608n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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