A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838887



Internal ID18422241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62495270..62630578hg38UCSC Ensembl
Innerchr11:62262742..62398050hg19UCSC Ensembl
Innerchr11:62019318..62154626hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38135309
hg19135309
hg18135309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584599
Supporting Variants
Samples2RB
Known GenesAHNAK, B3GAT3, EEF1G, EML3, GANAB, MIR3654, MIR6747, MTA2, ROM1, TUT1
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)essv9838887
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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