A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6881n100



Internal ID22792968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6975834..7182319hg38UCSC Ensembl
chr8:6833356..7039841hg19UCSC Ensembl
chr8:6820766..7027251hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38206486
hg19206486
hg18206486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033361, nsv1028980
Samples
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFT1P, DEFT1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6881n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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