A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662369



Internal ID9928474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50913810..50920527hg38UCSC Ensembl
chr17:48991171..48997888hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386718
hg196718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6420954, essv5399163
SamplesNA19189, NA19473
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662369
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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