A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999869



Internal ID6735792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92151220..92155258hg38UCSC Ensembl
Outerchr14:92617564..92621602hg19UCSC Ensembl
Outerchr14:91687317..91691355hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383360
hg193360
hg183360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565094
SamplesHuRef
Known GenesCPSF2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999869
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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