A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838873



Internal ID18422602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34408482..34538187hg38UCSC Ensembl
Innerchr15:34700683..34830388hg19UCSC Ensembl
Innerchr15:32487975..32617680hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38129706
hg19129706
hg18129706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584921
Supporting Variants
SamplesKSM006
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)essv9838873
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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