A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994565



Internal ID7063126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50542279..50544507hg38UCSC Ensembl
Outerchr19:51045536..51047764hg19UCSC Ensembl
Outerchr19:55737348..55739576hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382229
hg192229
hg182229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565037
SamplesHuRef
Known GenesLRRC4B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994565
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