A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7050n100



Internal ID22793137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12374760..12486092hg38UCSC Ensembl
chr8:12232269..12343601hg19UCSC Ensembl
chr8:12276640..12387972hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38111333
hg19111333
hg18111333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033172, nsv1018520, nsv1026330, nsv1029670, nsv1024730, nsv1015429, nsv1029932, nsv1020280, nsv1023494, nsv1031862
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7050n100
Frequency
Sample Size11257
Observed Gain96
Observed Loss39
Observed Complex0
Frequencyn/a


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