A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838340



Internal ID18769201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54218406..54237443hg38UCSC Ensembl
Innerchr19:54722275..54741319hg19UCSC Ensembl
Innerchr19:59414087..59433131hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819038
hg1919045
hg1819045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584744
Supporting Variants
SamplesKSF024
Known GenesLILRA6, LILRB3
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)essv9838340
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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