A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996978



Internal ID7080948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2051802..2053242hg38UCSC Ensembl
Outerchr17:1955096..1956536hg19UCSC Ensembl
Outerchr17:1901846..1903286hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381441
hg191441
hg181441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563603
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996978
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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