A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584069



Internal ID6708765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147016557..147016557hg38UCSC Ensembl
chr5:146396120..146396120hg19UCSC Ensembl
chr5:146376313..146376313hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988317
Supporting Variants
SamplesHuRef
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584069
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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