A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84205



Internal ID11303516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10616743..10814095hg38UCSC Ensembl
Innerchr1:10676800..10874152hg19UCSC Ensembl
Innerchr1:10599387..10796739hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38197353
hg19197353
hg18197353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29966
Supporting Variants
SamplesHuRef
Known GenesCASZ1, PEX14
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84205
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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