A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659921



Internal ID9926026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10858344..10863297hg38UCSC Ensembl
chr17:10761661..10766614hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384954
hg194954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6308190, essv6353934, essv6049080, essv5803552, essv5560835, essv6248882, essv5814761, essv5682129, essv6261639, essv5981023, essv6437489, essv6541632
SamplesNA19350, NA20294, NA18504, NA19443, NA18510, NA18627, NA19904, NA19456, NA19437, NA19257, NA19467, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659921
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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