A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991453



Internal ID6727417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222951467..222951467hg38UCSC Ensembl
chr1:223124809..223124809hg19UCSC Ensembl
chr1:221191432..221191432hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581682
SamplesHuRef
Known GenesDISP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991453
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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