A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673490



Internal ID9592909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30385345..30385583hg38UCSC Ensembl
chr17:28712363..28712601hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6344514, essv5792926, essv5956433, essv5490206, essv5606045, essv6597879
SamplesNA19819, HG01365, HG01204, HG00353, HG00740, NA19746
Known GenesCPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673490
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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