A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997496



Internal ID7063835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12580668..12589037hg38UCSC Ensembl
Outerchr19:12691482..12699851hg19UCSC Ensembl
Outerchr19:12552482..12560851hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388370
hg198370
hg188370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565327
SamplesHuRef
Known GenesZNF490
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997496
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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