A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666333



Internal ID9585752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58450295..58453551hg38UCSC Ensembl
chr17:56527656..56530912hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383257
hg193257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5953225, essv6245674
SamplesHG01204, HG00638
Known GenesHSF5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666333
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer