A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678593



Internal ID9944698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:144381974..144399183hg38UCSC Ensembl
chr3:144100816..144118025hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3817210
hg1917210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5602506
SamplesNA19436
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678593
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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