A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996372



Internal ID7080567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49902955..49908214hg38UCSC Ensembl
Outerchr19:50406212..50411471hg19UCSC Ensembl
Outerchr19:55098024..55103283hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385260
hg195260
hg185260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564354
SamplesHuRef
Known GenesIL4I1, NUP62
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996372
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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