A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838921



Internal ID18422771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2935217..3102350hg38UCSC Ensembl
Innerchr8:2792739..2959872hg19UCSC Ensembl
Innerchr8:2780146..2947279hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38167134
hg19167134
hg18167134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584572
Supporting Variants
SamplesOA005
Known GenesCSMD1
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)essv9838921
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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