A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7117358



Internal ID10048954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297804..212299285hg38UCSC Ensembl
Outerchr1:212471146..212472627hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2847791
Supporting Variants
SamplesHuRef
Known GenesPPP2R5A
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7117358
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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