A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6229079



Internal ID8762888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117861499..117863354hg38UCSC Ensembl
chr8:118873738..118875593hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664743
Supporting Variants
SamplesHG00154
Known GenesEXT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6229079
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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