A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670482



Internal ID9936587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49529436..49530560hg38UCSC Ensembl
chr3:49566869..49567993hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5697674, essv6399090
SamplesNA19313, NA19346
Known GenesDAG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670482
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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