A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657089



Internal ID9923194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158485380..158544049hg38UCSC Ensembl
chr1:158455170..158513839hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3858670
hg1958670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5543980
SamplesHG00338
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657089
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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