A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838737



Internal ID18422915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99402914..99479539hg38UCSC Ensembl
Innerchr4:100324071..100400696hg19UCSC Ensembl
Innerchr4:100543094..100619719hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3876626
hg1976626
hg1876626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584520
Supporting Variants
SamplesOA018
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)essv9838737
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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