A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675820



Internal ID2908907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59032322..59040843hg38UCSC Ensembl
chr17:57109683..57118204hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388522
hg198522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5746341, essv6467528, essv6383370, essv5869236, essv5607601
SamplesNA19059, NA19088, NA18982, HG00608, NA19079
Known GenesTRIM37
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675820
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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