A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994503



Internal ID6730456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76833405..76848357hg38UCSC Ensembl
Outerchr5:76129230..76144182hg19UCSC Ensembl
Outerchr5:76164986..76179938hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3814953
hg1914953
hg1814953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565588
SamplesHuRef
Known GenesF2RL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994503
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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