A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8317n54



Internal ID20141741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50206077..50383123hg38UCSC Ensembl
chr3:50243510..50420554hg19UCSC Ensembl
chr3:50218514..50395558hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38177047
hg19177045
hg18177045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590254, nsv590256, nsv590257
Samples
Known GenesCACNA2D2, CYB561D2, GNAI2, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, SLC38A3, TMEM115, TUSC2, ZMYND10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8317n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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