A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv78n111



Internal ID22798278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31957487..31965910hg38UCSC Ensembl
chr13:32531624..32540047hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg388424
hg198424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160099, nsv1160098, nsv1160100, nsv1160097
Samples
Known GenesEEF1DP3
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)dgv78n111
Frequency
Sample Size369
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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