A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666427



Internal ID9932532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54242297..54250274hg38UCSC Ensembl
chr17:52319658..52327635hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387978
hg197978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6250501
SamplesNA18544
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666427
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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