A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667141



Internal ID2900228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42377913..42384050hg38UCSC Ensembl
Outerchr17:42377876..42384100hg38UCSC Ensembl
Innerchr17:40529931..40536068hg19UCSC Ensembl
Outerchr17:40529894..40536118hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386225
hg196225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5669182
SamplesHG00243
Known GenesSTAT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667141
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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