A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5780805



Internal ID9630530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:126618397..126621975hg38UCSC Ensembl
Outerchr8:126618360..126622025hg38UCSC Ensembl
Innerchr8:127630642..127634220hg19UCSC Ensembl
Outerchr8:127630605..127634270hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676101
Supporting Variants
SamplesNA19355
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5780805
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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