A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584580



Internal ID18770050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94545059..94564122hg38UCSC Ensembl
Innerchr8:95557287..95576350hg19UCSC Ensembl
Innerchr8:95626463..95645526hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3819064
hg1919064
hg1819064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838343
SamplesOA018
Known GenesKIAA1429
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)esv3584580
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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