A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5785680



Internal ID9402715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94201199..94203655hg38UCSC Ensembl
Outerchr8:94201042..94203808hg38UCSC Ensembl
Innerchr8:95213427..95215883hg19UCSC Ensembl
Outerchr8:95213270..95216036hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382767
hg192767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660000
Supporting Variants
SamplesNA18606
Known GenesCDH17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5785680
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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