A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998391



Internal ID7081794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:413797..413856hg38UCSC Ensembl
chr17:263588..263647hg19UCSC Ensembl
chr17:263934..263993hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572850
SamplesHuRef
Known GenesC17orf97
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998391
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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