A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674670



Internal ID9594089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243277286..243282336hg38UCSC Ensembl
chr1:243440588..243445638hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385051
hg195051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6301141
SamplesHG00556
Known GenesSDCCAG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674670
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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