A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5397614



Internal ID9032099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117968518..117968869hg38UCSC Ensembl
chr8:118980757..118981108hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678041
Supporting Variants
SamplesHG00657
Known GenesEXT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5397614
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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