A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5499680



Internal ID8477083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49480397..49484864hg38UCSC Ensembl
Outerchr3:49480360..49484914hg38UCSC Ensembl
Innerchr3:49517830..49522297hg19UCSC Ensembl
Outerchr3:49517793..49522347hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384555
hg194555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670969
Supporting Variants
SamplesHG00590
Known GenesDAG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5499680
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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