A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667257



Internal ID4711591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3079431..3091237hg19UCSC Ensembl
Outerchr4:3079394..3091287hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5749480
SamplesNA20786
Known GenesHTT
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667257
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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