A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990300



Internal ID6726268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102867902..102867905hg38UCSC Ensembl
chr8:103880130..103880133hg19UCSC Ensembl
chr8:103949306..103949309hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584461
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990300
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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