A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662366



Internal ID9581785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6933348..6940517hg38UCSC Ensembl
chr8:6790870..6798039hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387170
hg197170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6061514, essv6175020, essv5518905, essv6535519, essv6499054, essv6096767, essv5590711, essv6154364, essv5408510, essv6375212, essv5677105
SamplesHG00189, HG01052, NA19660, NA19373, HG00281, HG00323, HG01384, NA12342, NA19675, HG00336, HG00112
Known GenesDEFA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662366
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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