A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584760



Internal ID18770230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72022861..72044359hg38UCSC Ensembl
Innerchr2:72249991..72271489hg19UCSC Ensembl
Innerchr2:72103499..72124997hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3821499
hg1921499
hg1821499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838387
SamplesKSF005
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)esv3584760
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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