A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3245n100



Internal ID20154861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46267481..46351303hg38UCSC Ensembl
chr17:44344847..44428669hg19UCSC Ensembl
chr17:41700624..41784425hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3883823
hg1983823
hg1883802
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057165, nsv1060051
Samples
Known GenesARL17A, ARL17B, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3245n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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