A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29984



Internal ID12608178
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 StatusM
Merged Variants
Supporting Variantsessv84223
SamplesHuRef
Known GenesDGKQ, GAK, TMEM175
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv29984
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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