A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668486



Internal ID9934591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92427408..92435807hg38UCSC Ensembl
chr1:92892965..92901364hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5877448, essv6370806, essv6122880, essv6047744, essv5803118, essv5446690
SamplesHG00337, HG00271, HG00335, HG00182, HG00266, HG00342
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668486
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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