A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv183n111



Internal ID22798383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185381642..185394512hg38UCSC Ensembl
chr3:185099430..185112300hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3812871
hg1912871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161011, nsv1161010
Samples
Known GenesMAP3K13
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)dgv183n111
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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