A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993625



Internal ID7062537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223031357..223031435hg38UCSC Ensembl
chr1:223204699..223204777hg19UCSC Ensembl
chr1:221271322..221271400hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571180
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993625
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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