A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838284



Internal ID18769264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142018623..142033256hg38UCSC Ensembl
Innerchr8:143099984..143114617hg19UCSC Ensembl
Innerchr8:143097891..143112524hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3814634
hg1914634
hg1814634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584897
Supporting Variants
SamplesKSM003
Known Genes
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)essv9838284
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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