A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5319n100



Internal ID20156935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70093477..70228302hg38UCSC Ensembl
chr4:70959194..71094019hg19UCSC Ensembl
chr4:70993783..71128608hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38134826
hg19134826
hg18134826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007900, nsv1013627, nsv997393, nsv1012512, nsv1005791
Samples
Known GenesC4orf40, CSN1S2BP, FDCSP, ODAM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5319n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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