A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6974n100



Internal ID20158590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7886530..7930428hg38UCSC Ensembl
chr8:7744052..7787950hg19UCSC Ensembl
chr8:7781462..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3843899
hg1943899
hg1843899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024494, nsv1020139, nsv1015423, nsv1015333, nsv1034785, nsv1023144
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6974n100
Frequency
Sample Size29084
Observed Gain96
Observed Loss19
Observed Complex0
Frequencyn/a


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