A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568778



Internal ID7040160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6730315..6730635hg38UCSC Ensembl
chr8:6587836..6588156hg19UCSC Ensembl
chr8:6575244..6575564hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992826
Supporting Variants
SamplesHuRef
Known GenesAGPAT5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568778
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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