A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988353



Internal ID6724325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24101642..24106363hg38UCSC Ensembl
Outerchr14:24570851..24575572hg19UCSC Ensembl
Outerchr14:23640691..23645412hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384722
hg194722
hg184722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565746
SamplesHuRef
Known GenesPCK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988353
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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