A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838892



Internal ID18769298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32463775..32605994hg38UCSC Ensembl
Innerchr6:32431552..32573771hg19UCSC Ensembl
Innerchr6:32539530..32681749hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38142220
hg19142220
hg18142220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584531
Supporting Variants
SamplesKSM006
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)essv9838892
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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