A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838905



Internal ID18768834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378084..39527675hg38UCSC Ensembl
Innerchr8:39235603..39385194hg19UCSC Ensembl
Innerchr8:39354760..39504351hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38149592
hg19149592
hg18149592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584884
Supporting Variants
Samples1WS
Known GenesADAM3A, ADAM5
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)essv9838905
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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