A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837909



Internal ID18769149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:93235451..93638176hg38UCSC Ensembl
Innerchr4:94156602..94559327hg19UCSC Ensembl
Innerchr4:94375625..94778350hg18UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg38402726
hg19402726
hg18402726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584808
Supporting Variants
SamplesKSF008
Known GenesGRID2
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)essv9837909
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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