A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838912



Internal ID18769534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378084..39531605hg38UCSC Ensembl
Innerchr8:39235603..39389124hg19UCSC Ensembl
Innerchr8:39354760..39508281hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38153522
hg19153522
hg18153522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584886
Supporting Variants
SamplesOA013
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)essv9838912
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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