A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004819



Internal ID7069915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58384171..58390279hg38UCSC Ensembl
chr5:57679998..57686106hg19UCSC Ensembl
chr5:57715755..57721863hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386109
hg196109
hg186109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv144e180
Supporting Variantsessv3576688
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004819
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