A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5782n100



Internal ID22791869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112290569..112347620hg38UCSC Ensembl
chr5:111626266..111683317hg19UCSC Ensembl
chr5:111654165..111711216hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3857052
hg1957052
hg1857052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021530, nsv1028181
Samples
Known GenesEPB41L4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5782n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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