A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667547



Internal ID9933652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100967658..100985720hg38UCSC Ensembl
chr8:101979886..101997948hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3818063
hg1918063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5488510, essv6075907, essv6457055, essv6300915, essv5691612, essv5941316, essv5632354, essv5583029
SamplesNA19700, NA18510, NA19107, NA19374, NA19189, NA19391, NA19461, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667547
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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