A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838188



Internal ID18769282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:91631964..91641428hg38UCSC Ensembl
Innerchr9:94394246..94403710hg19UCSC Ensembl
Innerchr9:93434067..93443531hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg389465
hg199465
hg189465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584916
Supporting Variants
SamplesKSM006
Known GenesMIR3910-1, MIR3910-2
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)essv9838188
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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