A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989228



Internal ID7076042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76170272..76175124hg38UCSC Ensembl
Outerchr5:75466097..75470949hg19UCSC Ensembl
Outerchr5:75501853..75506705hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384853
hg194853
hg184853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565299
SamplesHuRef
Known GenesSV2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989228
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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