A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838355



Internal ID18769331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:10744135..10764097hg38UCSC Ensembl
Innerchr9:10744135..10764097hg19UCSC Ensembl
Innerchr9:10734135..10754097hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3819963
hg1919963
hg1819963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584581
Supporting Variants
SamplesKSM008
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)essv9838355
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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