A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674408



Internal ID9940513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62399536..62418446hg38UCSC Ensembl
Outerchr17:62399499..62418496hg38UCSC Ensembl
Innerchr17:60476897..60495807hg19UCSC Ensembl
Outerchr17:60476860..60495857hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3818998
hg1918998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5756837
SamplesHG00536
Known GenesEFCAB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674408
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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