A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584878



Internal ID18770348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8235660..8313949hg38UCSC Ensembl
Innerchr8:8093182..8171471hg19UCSC Ensembl
Innerchr8:8130592..8208881hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3878290
hg1978290
hg1878290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838744
SamplesOA072
Known GenesFAM86B3P
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)esv3584878
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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