A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5015n100



Internal ID22791102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195532487..195751823hg38UCSC Ensembl
chr3:195259289..195478694hg19UCSC Ensembl
chr3:196740578..196964365hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38219337
hg19219406
hg18223788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008530, nsv1008027, nsv998929, nsv1010428, nsv1007146, nsv1013035, nsv999423, nsv1007754, nsv1008944, nsv1006220, nsv1014026, nsv1009930, nsv1010767, nsv999355, nsv999259, nsv1003481
Samples
Known GenesAPOD, MIR570, MUC20, MUC4, PPP1R2, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5015n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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