A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1347n100



Internal ID19011715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5126696..5284878hg38UCSC Ensembl
chr12:5235862..5394044hg19UCSC Ensembl
chr12:5106123..5264305hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38158183
hg19158183
hg18158183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049313, nsv1043453
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1347n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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