A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666442



Internal ID9932547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141041494..141046354hg38UCSC Ensembl
chr3:140760336..140765196hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg384861
hg194861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5996198, essv6245485, essv5635175, essv5933477, essv5451829, essv6309825
SamplesNA19393, NA18504, NA18510, NA18874, NA19247, NA19376
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666442
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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