A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7031n100



Internal ID20158647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12305218..12412191hg38UCSC Ensembl
chr8:12162727..12269700hg19UCSC Ensembl
chr8:12207096..12314071hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38106974
hg19106974
hg18106976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030963, nsv1024078
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7031n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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