A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670533



Internal ID9936638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14343553..14350665hg38UCSC Ensembl
chr3:14385053..14392165hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg387113
hg197113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6537291, essv5602592, essv5929074, essv5890980, essv5463011
SamplesNA18486, NA19434, NA19398, NA19248, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670533
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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