A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666687



Internal ID9932792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:66095803..66105277hg38UCSC Ensembl
chr4:66961521..66970995hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg389475
hg199475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6264401, essv5413408, essv6013661, essv6590556, essv6207064, essv5688140
SamplesNA19443, NA18870, NA19917, NA19462, HG01342, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666687
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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