A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987994



Internal ID6723968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10271084..10275888hg38UCSC Ensembl
Outerchr5:10271196..10276000hg19UCSC Ensembl
Outerchr5:10324196..10329000hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg384805
hg194805
hg184805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564332
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv987994
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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