A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84223



Internal ID11303534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:857569..970571hg38UCSC Ensembl
Innerchr4:851357..964359hg19UCSC Ensembl
Innerchr4:841357..954359hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113003
hg19113003
hg18113003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29984
Supporting Variants
SamplesHuRef
Known GenesDGKQ, GAK, TMEM175
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84223
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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