A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989370



Internal ID6725340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25346559..25346783hg38UCSC Ensembl
chr8:25204075..25204299hg19UCSC Ensembl
chr8:25259992..25260216hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567001
SamplesHuRef
Known GenesDOCK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989370
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