A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584922



Internal ID7056304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128870584..128870584hg38UCSC Ensembl
chr8:129882830..129882830hg19UCSC Ensembl
chr8:129952012..129952012hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008036
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584922
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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