A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993784



Internal ID7062696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40645073..40654521hg38UCSC Ensembl
Outerchr19:41150978..41160426hg19UCSC Ensembl
Outerchr19:45842818..45852266hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg389449
hg199449
hg189449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563923
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993784
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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