A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv136n111



Internal ID19022617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1038223..1329640hg38UCSC Ensembl
chr19:1038222..1329639hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38291418
hg19291418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160557, nsv1160558
Samples
Known GenesABCA7, ATP5D, C19orf24, C19orf26, CIRBP, CIRBP-AS1, CNN2, EFNA2, GPX4, HMHA1, MIDN, POLR2E, SBNO2, STK11
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)dgv136n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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