A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987544



Internal ID7060193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229933727..229934399hg38UCSC Ensembl
chr2:230798443..230799115hg19UCSC Ensembl
chr2:230506687..230507359hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38673
hg19673
hg18673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3570348
SamplesHuRef
Known GenesFBXO36
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv987544
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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