A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838679



Internal ID18769066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:330704..382559hg38UCSC Ensembl
Innerchr6:330704..382559hg19UCSC Ensembl
Innerchr6:275704..327559hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3851856
hg1951856
hg1851856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584838
Supporting Variants
SamplesB4
Known GenesDUSP22
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)essv9838679
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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