A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994531



Internal ID7063092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45169332..45178998hg38UCSC Ensembl
Outerchr17:43246699..43256365hg19UCSC Ensembl
Outerchr17:40602482..40612148hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389667
hg199667
hg189667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565352
SamplesHuRef
Known GenesHEXIM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994531
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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