A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670185



Internal ID9589604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74886450..74890181hg38UCSC Ensembl
chr17:72882582..72886306hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383732
hg193725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6234298
SamplesHG00693
Known GenesFADS6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670185
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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