A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3565n100



Internal ID22789652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42786621..43044850hg38UCSC Ensembl
chr19:43290773..43549002hg19UCSC Ensembl
chr19:47982613..48240842hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38258230
hg19258230
hg18258230
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057814, nsv1064000, nsv1058047, nsv1055834, nsv1061984, nsv1063315, nsv1061783, nsv1066261, nsv1059036
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3565n100
Frequency
Sample Size11257
Observed Gain16
Observed Loss199
Observed Complex0
Frequencyn/a


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