A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991539



Internal ID6727503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134955063..134955715hg38UCSC Ensembl
chr3:134673905..134674557hg19UCSC Ensembl
chr3:136156595..136157247hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38653
hg19653
hg18653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581027
SamplesHuRef
Known GenesEPHB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991539
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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