A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998139



Internal ID7081542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:108229294..108232481hg38UCSC Ensembl
Outerchr5:107564995..107568182hg19UCSC Ensembl
Outerchr5:107592894..107596081hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg383708
hg193708
hg183708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564725
SamplesHuRef
Known GenesFBXL17
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998139
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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