A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6923n100



Internal ID20158539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7357077..7545918hg38UCSC Ensembl
chr8:7214599..7403440hg19UCSC Ensembl
chr8:7202009..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38188842
hg19188842
hg18188842
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021140, nsv1023987, nsv1022002, nsv1018524
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6923n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss9
Observed Complex0
Frequencyn/a


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