A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838819



Internal ID18768835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32488906..32602588hg38UCSC Ensembl
Innerchr6:32456683..32570365hg19UCSC Ensembl
Innerchr6:32564661..32678343hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38113683
hg19113683
hg18113683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584842
Supporting Variants
Samples1WS
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
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)essv9838819
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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