A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989739



Internal ID7076324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8336412..8344914hg38UCSC Ensembl
Outerchr17:8239730..8248232hg19UCSC Ensembl
Outerchr17:8180455..8188957hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg388503
hg198503
hg188503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563632
SamplesHuRef
Known GenesODF4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989739
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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