A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838781



Internal ID18422662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439818..7545808hg38UCSC Ensembl
Innerchr8:7297340..7403330hg19UCSC Ensembl
Innerchr8:7284750..7390740hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105991
hg19105991
hg18105991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584575
Supporting Variants
SamplesKSM008
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)essv9838781
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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