A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667478



Internal ID9933583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8681187..8682123hg38UCSC Ensembl
Outerchr17:8681030..8682276hg38UCSC Ensembl
Innerchr17:8584505..8585441hg19UCSC Ensembl
Outerchr17:8584348..8585594hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5864821
SamplesHG01389
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667478
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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