A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001715



Internal ID6713849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3972105..3981537hg38UCSC Ensembl
Outerchr19:3972103..3981535hg19UCSC Ensembl
Outerchr19:3923103..3932535hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg389433
hg199433
hg189433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565383
SamplesHuRef
Known GenesEEF2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001715
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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