A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666906



Internal ID9933011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79957587..79958621hg38UCSC Ensembl
chr8:80869822..80870856hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5430167, essv5808695, essv6217175, essv6087297, essv5503079, essv6576829, essv5670016
SamplesNA18618, NA19056, NA19081, NA18637, NA18636, NA19080, HG00437
Known GenesMRPS28
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666906
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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