A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584533



Internal ID18770003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:40815280..40819300hg38UCSC Ensembl
Innerchr6:40783019..40787039hg19UCSC Ensembl
Innerchr6:40890997..40895017hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384021
hg194021
hg184021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837891, essv9837902, essv9837880
Samples8S, 2RB, B4
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)esv3584533
Frequency
Sample Size34
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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