A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678164



Internal ID9944269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28141687..28142247hg38UCSC Ensembl
chr17:26468713..26469273hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5649871
SamplesHG00418
Known GenesNLK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678164
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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