A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584830



Internal ID18770300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142202639..142207042hg38UCSC Ensembl
Innerchr5:141582204..141586607hg19UCSC Ensembl
Innerchr5:141562388..141566791hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384404
hg194404
hg184404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837955
SamplesB4
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)esv3584830
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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