A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010241



Internal ID7074306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141764512..141768650hg38UCSC Ensembl
Outerchr5:141144079..141148217hg19UCSC Ensembl
Outerchr5:141124263..141128401hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384139
hg194139
hg184139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563872
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010241
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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