A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677388



Internal ID9596807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74884394..74887159hg38UCSC Ensembl
chr17:72880524..72883288hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382766
hg192765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6480941, essv5480222
SamplesNA19700, NA19311
Known GenesFADS6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677388
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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