A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5563559



Internal ID9408971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70106701..70108294hg38UCSC Ensembl
chr17:68102842..68104435hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676947
Supporting Variants
SamplesNA18612
Known GenesKCNJ16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5563559
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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