A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv128n100



Internal ID20151744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17249833..17309505hg38UCSC Ensembl
chr1:17576328..17636000hg19UCSC Ensembl
chr1:17448915..17508587hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3859673
hg1959673
hg1859673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011098, nsv1005242
Samples
Known GenesPADI3, PADI4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv128n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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