A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv507n100



Internal ID22786594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196740093..196819940hg38UCSC Ensembl
chr1:196709223..196789070hg19UCSC Ensembl
chr1:194975846..195055693hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3879848
hg1979848
hg1879848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013103, nsv1013954, nsv997593, nsv998323, nsv1008478
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv507n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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