A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837942



Internal ID18769105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:188221875..189006348hg38UCSC Ensembl
Innerchr4:189143029..189927502hg19UCSC Ensembl
Innerchr4:189380023..190164496hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38784474
hg19784474
hg18784474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584824
Supporting Variants
SamplesKSF005
Known GenesLINC01060
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)essv9837942
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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