A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584518



Internal ID18423302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99401288..99456606hg38UCSC Ensembl
Innerchr4:100322445..100377763hg19UCSC Ensembl
Innerchr4:100541468..100596786hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3855319
hg1955319
hg1855319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50e213
Supporting Variantsessv9838692
SamplesOA012
Known GenesADH7
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)esv3584518
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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