A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672850



Internal ID9938955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72384342..72388501hg38UCSC Ensembl
chr17:70380483..70384642hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg384160
hg194160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv564e199
Supporting Variantsessv6389693
SamplesHG00671
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672850
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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