A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837845



Internal ID18769690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39455596..39703396hg38UCSC Ensembl
Innerchr9:41600614..41848414hg19UCSC Ensembl
Innerchr9:41590614..41838414hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38247801
hg19247801
hg18247801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584908
Supporting Variants
SamplesOA053
Known GenesLOC653501
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)essv9837845
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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