A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006393



Internal ID6718512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2805832..2805887hg38UCSC Ensembl
chr19:2805830..2805885hg19UCSC Ensembl
chr19:2756830..2756885hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577994
SamplesHuRef
Known GenesTHOP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006393
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