A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668978



Internal ID9935083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2062792..2063662hg38UCSC Ensembl
chr17:1966086..1966956hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38871
hg19871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5702348, essv6573841
SamplesHG00542, HG00475
Known GenesSMG6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668978
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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