A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3112n100



Internal ID22789199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18410504..18593977hg38UCSC Ensembl
chr17:18313818..18497291hg19UCSC Ensembl
chr17:18254543..18438016hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38183474
hg19183474
hg18183474
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057986, nsv1059979
Samples
Known GenesCCDC144B, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3112n100
Frequency
Sample Size11257
Observed Gain33
Observed Loss8
Observed Complex0
Frequencyn/a


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