A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659941



Internal ID9579360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62013487..62014914hg38UCSC Ensembl
chr1:62479159..62480586hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6143792, essv6454211
SamplesHG00442, HG00513
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659941
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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