A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570348



Internal ID7041730
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987544
Supporting Variants
SamplesHuRef
Known GenesFBXO36
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570348
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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