A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667230



Internal ID9586649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50976060..50976326hg38UCSC Ensembl
Outerchr17:50976023..50976376hg38UCSC Ensembl
Innerchr17:49053421..49053687hg19UCSC Ensembl
Outerchr17:49053384..49053737hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5765055
SamplesNA12716
Known GenesSPAG9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667230
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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