A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572232



Internal ID6696928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26590403..26590403hg38UCSC Ensembl
chr8:26447919..26447919hg19UCSC Ensembl
chr8:26503836..26503836hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38180
hg19180
hg18180
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988025
Supporting Variants
SamplesHuRef
Known GenesDPYSL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572232
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer