A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563717



Internal ID7036477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137512231..137522286hg38UCSC Ensembl
Outerchr5:136847920..136857975hg19UCSC Ensembl
Outerchr5:136875819..136885874hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810056
hg1910056
hg1810056
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001872
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563717
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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